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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 | Uitgave 1/2024

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.

vorige artikel “It is more Important than food sometimes”; Meanings and Functions of Music in the Lives of Autistic Adults Through a hermeneutic-phenomenological Lense

volgende artikel Brief Report: Intersection of Sets of Symptoms Between Congenital Blindness and ASD: Proposing of Differential Criteria

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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 / Uitgave 1/2024
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05588-x

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