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

被引：4

作者：

Lopez-Garrido, Maria-Pilar ^{[1
]}

Carrascosa-Romero, Maria-Carmen ^{[2
]}

Montero-Hernandez, Minerva ^{[1
]}

Ruiz-Almansa, Jesus ^{[1
]}

Sanchez-Sanchez, Francisco ^{[1
]}

机构：

[1] Univ Castilla La Mancha UCLM, Lab Genet Med, Inst Invest Discapacidades Neurol IDINE, Albacete, Spain

[2] Complejo Hosp Univ Albacete, Serv Neuropediat, Albacete, Spain

来源：

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2024年 / 54卷 / 01期

关键词：

ASD; Alpha thalassaemia; Autism; ATRX; ATRX syndrome; Intellectual disability; AMINO-ACID SUBSTITUTIONS; NONSENSE MUTATION; MISSENSE MUTATION; PROTEIN; RETARDATION; DOMAIN; SERVER;

D O I：

10.1007/s10803-022-05588-x

中图分类号：

B844 [发展心理学（人类心理学）];

学科分类号：

040202 ;

摘要：

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.

引用

页码：379 / 388

页数：10

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