Expansion of the Clinical Phenotype Associated with Mutations in Activity-Dependent Neuroprotective Protein

Published July 23, 2014 in Journal of Medical Genetics

A new study has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients’ developmental disabilities. Researchers identified a genetic change in a newly recognized autism-associated gene, Activity-Dependent Neuroprotective Protein (ADNP), in a girl with developmental delay. This change in the ADNP gene helps explain the cause of developmental delay in this patient. This same genetic change in ADNP was also found in a boy who was diagnosed with autism.

http://jmg.bmj.com/content/51/9/587

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