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Journal of Autism and Developmental Disorders

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20-05-2022 | Brief Report

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report

Auteurs: María-Pilar López-Garrido, María-Carmen Carrascosa-Romero, Minerva Montero-Hernández, Jesús Ruiz-Almansa, Francisco Sánchez-Sánchez

Gepubliceerd in: Journal of Autism and Developmental Disorders

Abstract

ATRX mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic manifestations like facial dimorphism, hypotonia, microcephaly, skeletal abnormalities or urogenital malformations have been frequently observed in ATR-X syndrome. Herein, we report a missense ATRX mutation (Thr1621Met) in a patient with an autism spectrum disorder (ASD) diagnosis. Except for ID, no typical signs of ATR-X syndrome were found in the patient. These results confirm the extensive phenotypic variability associated to ATRX mutations and show the involvement of this gene in the ASD.

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Titel: Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report
Auteurs: María-Pilar López-Garrido
María-Carmen Carrascosa-Romero
Minerva Montero-Hernández
Jesús Ruiz-Almansa
Francisco Sánchez-Sánchez
Publicatiedatum: 20-05-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05588-x

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