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Discovering the ANK2-related autism phenotype

Claire Guissart1, Anne Polge1, Nelly Durand2

  • 1Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes, University of Montpellier, Nîmes, France.

Clinical Genetics
|April 23, 2023
PubMed
Summary

Mutations in the ANK2 gene are linked to autism. This study details the first patient with autism caused by a novel ANK2 mutation, aiding future diagnoses.

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Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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