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Research by Topic: Biomarkers
On this week’s podcast, a new study shows that baby teeth can show biomarkers of prenatal exposures in kids with autism. Also, new data linking autism to allergies, including food allergies.
ASF Scientific Advisory Board member James McPartland, PhD, of the Yale Child Study Center will be leading a webinar discussion for Spectrum tomorrow, Jan. 31, 2018, at 3PM EST. The webinar will focus on the state of science relating to social-communicative biomarkers for autism. He will highlight his lab’s research on a particular brain-based biomarker […]
Biomarkers can help distinguish different types of features, but this past week they were used to predict who would respond to Pivotal Response Training, or PRT. Researchers, led by Dr. Pam Ventola at the Yale Child Study Center, looked at how the brain responded to a social or non-social situation as well as baseline features […]
Studies looking at interventions in autism have been plagued with issues of: what treatments will work best in which people, and use of instruments to detect change that were never designed for use in people with autism. Recently, a new instrument was developed to look at improvements in social – communication in autism. This the […]
The study found that individuals with ASD had significantly decreased metabolism of the amino acid L-Tryptophan compared to their control group and individuals with other neurodevelopmental disorders. This amino acid could be used as a potential indicator for a simple, early blood test for autism.
A new study using families from the Autism Genetic Resource Exchange (AGRE) finds that individuals with autism are 20% more likely to have copy-number variations of specific genes.
Scientists from George Washington University identified hundreds of molecular targets of the RORA gene. Of these molecular targets, 426 are linked to autism by the AutismKB database.
Excessive Cerebral Spinal Fluid and Enlarged Brain Size in Infants May Be a Potential Biomarker for AutismPublished April 29, 2013 in Brain: A Journal of Neurology
Researchers find that infants who later develop autism have more cerebral spinal fluid and larger brain sizes compared to typically developing infants. These differences could be a potential biomarker in infants for autism.
A special issue of Disease Markers offers a comprehensive review on how current genetic research can be applied to biomarker development in ASD.
Contradicting a popular hypothesis in autism, a new study from Australia has found no connection between autism and bacteria in the gut. For the peer-reviewed article, click here: http://www.ncbi.nlm.nih.gov/pubmed/22997101
Atypical Activation During the Embedded Figures Task as a Functional Magnetic Resonance Imaging Endophenotype of AutismPublished October 11, 2012 in Brain
This study uncovers a possible fMRI endophenotype of autism, showing that compared to typically developing controls with no family history of ASD, adolescents with autism and non-autistic siblings had atypical patterns of brain activation during the Embedded Figures Task.
Autism spectrum disorders (ASD) are a genetically and phenotypically heterogeneous group of syndromes defined by fundamental impairments in social reciprocity and language development accompanied by highly restrictive interests and/or repetitive behaviors. Recent advances in genetics, genomics, developmental neurobiology, systems biology, monogenic neurodevelopment syndromes, and induced pluripotent stem cells (iPSC) are now offering remarkable insights into their etiologies and converging to provide a clear and immediate path forward from the bench to the bedside.
“OBJECTIVE: Autism spectrum disorders (ASDs) are highly heritable neurodevelopmental disorders that onset clinically during the first years of life. ASD risk biomarkers expressed early in life could significantly impact diagnosis and treatment, but no transcriptome-wide biomarker classifiers derived from fresh blood samples from children with autism have yet emerged.RESULTS: Potential ASD biomarkers were discovered in one-half of the sample and used to build a classifier, with high diagnostic accuracy in the remaining half of the sample.”
Scientists at MIT have found that TAOK2, a gene in the autism-associated chromosomal region, is part of a signaling pathway that builds neuronal connections during development.
According to a study published in the American Journal of Medical Genetics, Women who have a milder version of the fragile X mutation, which can lead to the full mutation in their children, have some features of autism.
The nematode “Caenorhabditis elegans” may serve as a useful model to study synapses, the junctions between neurons.
Vanderbilt University researchers examine oxytocin and serotonin systems as biomarkers for autism spectrum disorders.
Vanderbilt scientists report that a disruption in serotonin transmission in the brain may be a contributing factor for autism spectrum disorder (ASD) and other behavioral conditions.
Newly Published Genetics/Brain Tissue Study Will Help Refine the Search for Specific Early Genetic Markers of Risk of Autism in Babies and ToddlersPublished March 22, 2012 in PLoS Genetics
A new study of autism published today in PLoS Genetics has discovered abnormal gene activity and gene deletions in the same brain region that also has a 67% overabundance of brain cells. This region the prefrontal cortexis involved in social, emotional, communication and language skills. The finding brings new understanding of what early genetic abnormalities lead to excess brain cells and to the abnormal brain wiring that cause core symptoms in autism. Importantly, the study also shows that gene activity abnormalities in autism change across the lifespan.
A new study from the Infant Brain Imaging Network, which includes researchers at the Center for Autism Research at The Children’s Hospital of Philadelphia (CHOP), found significant differences in brain development starting at age 6 months in high-risk infants who later develop autism, compared to high-risk infants who did not develop autism.
Older maternal and paternal age are jointly associated with having a child with autism, according to a recently published study led by researchers at The University of Texas Health Science Center at Houston (UTHealth).
The underlying reason autism is often associated with gastrointestinal problems is an unknown, but new results to be published in the online journal mBio on January 10 reveal that the guts of autistic children differ from other children in at least one important way: many children with autism harbor a type of bacteria in their guts that non-autistic children do not.
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating these problems in patients with too much of the protein, said Baylor College of Medicine scientists in a report that appears online in the journal Nature Genetics.
Immune system abnormalities that mimic those seen with autism spectrum disorders have been linked to the amyloid precursor protein (APP), reports a research team from the University of South Florida’s Department of Psychiatry and the Silver Child Development Center.
In the largest study of brain development in preschoolers with autism to date, a study by UC Davis MIND Institute researchers has found that 3-year-old boys with regressive autism, but not early onset autism, have larger brains than their healthy counterparts.
In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.
A small study found that male children with autism had larger brain weights and 67% more prefrontal brain neurons than children without autism.
University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children.Published October 22, 2011 in Medical News Today
The face and brain develop in coordination, with each influencing the other, beginning in the embryo and continuing through adolescence. Now, University of Missouri researchers have found distinct differences between the facial characteristics of children with autism compared to those of typically developing children…
Evidence found for the genetic basis of autism: Models of autism show that gene copy number controlsPublished October 5, 2011 in Science Daily
Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism — deletion of a 27-gene cluster on chromosome 16 — causes autism-like features. By generating mouse models of autism using a technique known as chromosome engineering, CSHL Professor Alea Mills and colleagues provide the first functional evidence that inheriting fewer copies of these genes leads to features resembling those used to diagnose children with autism.
Animal Model Research Could Lead To The Development Of Diagnostic Tests For Autism Based On BiomarkersPublished September 14, 2011 in Medical News Today
The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions and treatments.
Multivariate Searchlight Classification of Structural Magnetic Resonance Imaging in Children and Adolescents with AutismPublished September 5, 2011 in Biological Psychiatry
Multiple brain regions, including those belonging to the default mode network, exhibit aberrant structural organization in children with autism. Brain-based biomarkers derived from structural magnetic resonance imaging data may contribute to identification of the neuroanatomical basis of symptom heterogeneity and to the development of targeted early interventions.
Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have used a novel method for analyzing brain-scan data to distinguish children with autism from typically developing children. Their discovery reveals that the gray matter in a network of brain regions known to affect social communication and self-related thoughts has a distinct organization in people with autism.
People with autism and attention deficit hyperactivity disorder (ADHD) share some of the same underlying genetic risk factors, according to a study published this month in Science Translational Medicine. This is one of the first studies to find risk variants that are common to both disorders.In searching for rare copy number variations (CNVs) deletions and duplications in genetic material in people with ADHD, the researchers found more than a dozen regions that include genes implicated in bipolar disorder, schizophrenia, intellectual disability and autism.
Researchers Reveal 18 Novel Subtype-Dependent Genetic Variants for Autism Spectrum Disorders and Identify Potential Genetic Markers for Diagnostic ScreeningPublished April 28, 2011 in Science Daily
By dividing individuals with autism spectrum disorders (ASD) into four subtypes according to similarity of symptoms and reanalyzing existing genome-wide genetic data on these individuals vs. controls, researchers at the George Washington University School of Medicine and Health Sciences have identified 18 novel and highly significant genetic markers for ASD. In addition, ten of the variants were associated with more than one ASD subtype, providing partial replication of these genetic markers. This study thus identifies candidate genes for ASD and potential subtype-dependent genetic markers for diagnostic screening.
By mutating a single gene, researchers at MIT and Duke have produced mice with two of the most common traits of autism – compulsive, repetitive behavior and avoidance of social interaction. In this study, the researchers focused on one of the most common of those genes, known as shank3. Shank3 is found in synapses – the junctions between brain cells that allow them to communicate with each other. Feng, who joined MIT and the McGovern Institute last year, began studying shank3 a few years ago because he thought that synaptic proteins might contribute to autism and similar brain disorders, such as obsessive compulsive disorder.
This research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the […]
Currently, the neurological basis of autism spectrum disorders (ASDs) is poorly understood. “Shank3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for the development of 22q13 deletion syndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs”. In this study, mice with the Shank3 deletion were seen to exhibit “self-injurious repetitive […]
George Washington University researcher, Dr. Valerie Hu, Professor of Biochemistry and Molecular Biology, and her team at the School of Medicine and Health Sciences, have found that male and female sex hormones regulate expression of an important gene in neuronal cell culture through a mechanism that could explain not only higher levels of testosterone observed in some individuals with autism, but also why males have a higher incidence of autism than females.
A Set Of Brain Proteins Is Found To Play A Role In Over 100 Brain Diseases And Provides A New Insight Into Evolution Of BehaviorPublished December 21, 2010 in Medical News Today
In research just published, scientists have studied human brain samples to isolate a set of proteins that accounts for over 130 brain diseases. The paper also shows an intriguing link between diseases and the evolution of the human brain.
Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children. While the study is small (10 test subjects) and requires replication, it furthers previous research which has revealed hints of a mitochondrial dysfunction/autism connection. The researchers found that mitochondria from children with autism […]
Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2Published December 1, 2010 in Pediatrics, Scott-Van Zeeland et al
People with a common variant of the CNTNAP2 gene, a gene associated with a heightened risk of autism, ADD/ADHD and other language difficulties, have a "disconnect" between their frontal lobe and other areas of the brain important for language, according to this fMRI study. The disconnect may help explain some of the language and communication […]
Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, a new study by researchers at UC Davis has found. The study, published in the Journal of the American Medical Association (JAMA), found that cumulative damage and oxidative stress in mitochondria, the cell’s energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.
An autism study by Yale School of Medicine researchers using functional magnetic resonance imaging (fMRI) has identified a pattern of brain activity that may characterize the genetic vulnerability to developing autism spectrum disorder (ASD). The team identified three distinct “neural signatures”: trait markers — brain regions with reduced activity in children with ASD and their unaffected siblings; state markers — brain areas with reduced activity found only in children with autism; and compensatory activity — enhanced activity seen only in unaffected siblings. The enhanced brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.
In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi and her colleagues identified mutations in the gene called MECP2 as the culprit in a devastating neurological disorder called Rett syndrome . In new research in mice published in the current issue of the journal Nature, Zoghbi and her colleagues demonstrate that the loss of the protein MeCP2 in a special group of inhibitory nerve cells in the brain reproduces nearly all Rett syndrome features.
Scientists at the Wellcome Trust Centre for Human Genetics, University of Oxford, have identified a genetic variant which influences whether a person with dyslexia is more skilled with either the left or right hand. The finding identifies a novel gene for handedness and provides the first genetic evidence to support a much speculated link between handedness and a language-related disorder.
Researchers have uncovered a prominent genetic risk factor for autism spectrum disorders and schizophrenia is a small genomic deletion. Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant. Someone with this deletion is 13.58 times more likely to develop ASD or schizophrenia than is someone lacking this CNV. This gene mutation is also known to cause kidney disease (renal cysts and diabetes syndrome, RCAD).
Researchers at UCLA have discovered how an autism-risk gene rewires the brain, which could pave the way for treatments aimed at rebalancing brain circuits during early development. Dr. Geschwind and team examined the variations in brain function and connectivity resulting from two forms of the CNTNAP2 gene – one form of the gene increases the risk of autism. The researchers suspected that CNTNAP2 might have an important impact on brain activity. They used fMRI (functional magnetic resonance imaging) to scan 32 children’s brains while they were performing tasks related to learning. Only 16 of them had autism.The imaging results confirmed their suspicions. All the children with the autism-risk gene showed a disjointed brain, regardless of their diagnosis. Their frontal lobe was over-connected to itself, while connection to the rest of the brain was poor, especially with the back of the brain. There was also a difference between how the left and right sides of the brain connected with each other, depending on which CNTNAP2 version the child carried.The authors believe their findings could help identify autism risk earlier, and eventually lead to interventions that could enhance connections between the frontal lobe and the left side of the brain.
Insight into the role that MHC plays in the nervous system and may enhance our understanding of the factors that can contribute to neuropsychiatric disorders like autism and schizophrenia. Increased levels of a protein called major histocompatibility complex, or MHC, in fetal neurons may be a factor development of autism or schizophrenia.
A pregnant woman’s immune response to viral infections may induce subtle neurological changes in the unborn child that can lead to an increased risk for neurodevelopmental disorders including schizophrenia and autism.
Full-term neonates with jaundice are at greatly increased risk of later being diagnosed with a disorder of psychological development, a Danish study found. Neonatal jaundice typically is caused by increased bilirubin production and inadequate liver excretory function. Recent research has suggested that even moderate bilirubin exposure in very young children can be harmful, possibly leading to impairments in their development. They found that jaundice was more common among boys, infants born preterm, infants with congenital malformations, and low-birthweight infants.
Researchers at the Center for Neuroscience Research at Children’s National Medical Center have discovered that the two major types of signaling pathways activated during brain cell development. This knowledge may help scientists design new ways to induce the brain to repair itself when these signals are interrupted, and indicate a need for further research to determine whether disruptions of these pathways in early brain development could lead to common neurodevelopmental disorders such as epilepsy, cerebral palsy, autism, Down syndrome, ADHD, and intellectual disabilities.
If a boy’s X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.
An international team of scientists, led by researchers at the University of California, San Diego, has identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.
Kennedy Krieger Institute have announced new study results showing an early marker for later communication and social delays in infants at a higher-risk for autism may be infrequent gazing at other people when unprompted. The study also found that six-month-old high-risk infants demonstrated the same level of cause and effect learning skills when compared to low-risk infants of the same age.
A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.
A 15-minute brain scan identified adults with autism almost as effectively as conventional methods of diagnosis that rely on interviews with patients and their families, U.K. scientists said. The scan detected more than 90 percent of the autistic patients who had been diagnosed using intelligence tests, psychiatric interviews, physical examinations and blood tests, according to a study by Kings College London researchers.
This study analysed the genome-wide characteristics of rare (
Using microarrays, the department of molecular human genetics in Heidelberg, Germany identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional […]
IntegraGen SA, a French biotechnology company dedicated to gene discovery, announced today the publication of the results of a collaborative study reporting the use of a combined analysis of multiple genetic variants in a genetic score to help identify individuals at high risk of developing autism.
Schizophrenia involves some of the same genetic variations as autism and attention deficit disorders, a new whole-genome study has confirmed. In an effort to assess some of the common genetic variations that might underpin this fairly common but thorny mental illness, researchers sequenced DNA from 1,735 adults with schizophrenia and 3,485 healthy adults. Across the patients that had the disease, the researchers found many frequent variations related to copying or deleting genes, known as copy-number variations.
Significant advances in the neonatal intensive care have resulted in increased survival rates of children who are born at less than 26 weeks of gestation, so termed “extremely preterm children.” Notably, however, improved survival rates have been accompanied by a higher risk for later cognitive, neuromotor, and sensory impairments in these children.
A new study, the first of its kind, combines two complementary analytical brain imaging techniques to provide a more comprehensive and accurate picture of the neuroanatomy of the autistic brain.
Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father’s age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers. Advanced paternal age is associated with elevated autism risk only when the father is older and the mother is under 30, the study found.
Alison Singer says link between autism, vaccinations debunked but research progressing. But, she says, new science is overshadowed as some cling to discredited study. Some parents put kids in danger by still avoiding vaccines, trying dicey “therapies”. New research should move forward with science as a guide.
Researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion — a mutation that confers the highest known genetic risk for schizophrenia — is associated with changes in the development of the brain that ultimately affect how its circuit elements are assembled.The researchers would now like to figure out how these alterations in the circuitry of the brain affect the behavior of the mouse. They also hope that understanding the “mis-wiring” of the brain in a genetic animal model of schizophrenia would help them understand the causes of the disease in the general population
An international consortium of researchers, including three from the University of Utah, has discovered yet another genetic link to autism. Studying the genes of more than 1,000 families — including 150 from Utah — who have more than one person with the disorder, the researchers found a region on chromosome 5 that is strongly associated with autism.
In one of the first studies of its kind, an international team of researchers has uncovered a single-letter change in the genetic code that is associated with autism. The finding, published in the October 8 issue of the journal Nature, implicates a neuronal gene not previously tied to the disorder and more broadly, underscores a role for common DNA variation. In addition, the new research highlights two other regions of the genome, which are likely to contain rare genetic differences that may also influence autism risk.
Reviewing a larger population than in any other study of its kind, the California Department of Public Health (CDPH) has found that as parents age their risk of giving birth to a child with autism increases modestly. Published in the American Journal of Epidemiology, the new CDPH study shows that for each 10-year increase in a mothers age, the risk of autism increased by about 38 percent. For each 10-year increase in a fathers age, the risk of autism increased by about 22 percent.
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility GenesPublished June 1, 2009 in PLOS Genetics, Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al.
The study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders, but not in the healthy controls. The researchers, including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of […]
High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate genePublished May 1, 2009 in Molecular Psychiatry, Strom, Stone, Bosch, Merriman, Cantor, Geschwind, and Nelson
(From a UCLA press release) UCLA scientists have discovered a variant of a gene called CACNA1G that may increase a child's risk of developing autism, particularly in boys. "We found that a common form of the gene occurs more frequently in the DNA of families that have two or more sons affected by autism, but […]
A newly identified genetic variant could account for up to 15 percent of autism cases, say researchers who studied genes that are important in connecting brain cells. Researchers say the variant is carried by about 65 per cent of people with autism.
Typically developing human infants preferentially attend to biological motion within the first days of life. This ability is highly conserved across species and is believed to be critical for filial attachment and for detection of predators. The neural underpinnings of biological motion perception are overlapping with brain regions involved in perception of basic social signals […]
A Common Genetic variant in the neurexin superfamily member CNTNAP2 increases Familial Risk of AutismPublished December 1, 2008 in American Journal of Human Genetics, Arking, Cutler, et al
Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in […]
Serum antibodies in 100 mothers of children with autistic disorder (MCAD) were compared to 100 age-matched mothers with unaffected children (MUC) using as antigenic substrates human and rodent fetal and adult brain tissues, GFAP, and MBP. MCAD had significantly more individuals with Western immunoblot bands at 36 kDa in human fetal and rodent embryonic brain […]
Peripheral Biomarkers in Autism: Secreted Amyloid Precursor Protein-Alpha as a Probably Key Player in Early DiagnosisPublished October 15, 2008 in Inter. Journal Clinical Exp. Medicine, Bailey, Giunta, et al
Autism is a pervasive developmental disorder characterized by impairments in socialization and communication. There is currently no single molecular marker or laboratory tool capable of diagnosing autism at an early age. The purpose of this study is to explore the plausible use of peripheral biomarkers in the early diagnosis of autism via a sensitive ELISA. […]
Absence of Preferential Looking to the Eyes of Approaching Adults Predicts Level of Social Disability in 2-year old toddlers with Autism Spectrum DisorderPublished August 31, 2008 in Archives of General Psychiatry, Jones, Carr, et al
Looking at the eyes of others is important in early social development and in social adaptation throughout one’s life span. Our results indicate that in 2-year-old children with autism, this behavior is already derailed, suggesting critical consequences for development but also offering a potential biomarker for quantifying syndrome manifestation at this early age.
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression […]
Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to identify submicroscopic chromosomal rearrangements specific to autism. We discovered […]
We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations. Among the AGRE families, we observed five instances of a de novo deletion of 593 […]