Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

ABSTRACT:

Background

In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking.

Methods

We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and cl

SUBMITTER: Van Dijck A 

PROVIDER: S-EPMC6139063 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature