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

J Autism Dev Disord. 2024 Jan;54(1):379-388. doi: 10.1007/s10803-022-05588-x. Epub 2022 May 20.

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.

Keywords: ASD; ATRX; ATRX syndrome; Alpha thalassaemia; Autism; Intellectual disability.

Publication types

  • Case Reports

MeSH terms

  • Autism Spectrum Disorder* / complications
  • Autism Spectrum Disorder* / diagnosis
  • Autism Spectrum Disorder* / genetics
  • DNA Helicases / genetics
  • Humans
  • Intellectual Disability* / complications
  • Intellectual Disability* / genetics
  • Mental Retardation, X-Linked* / complications
  • Mental Retardation, X-Linked* / diagnosis
  • Mental Retardation, X-Linked* / genetics
  • Mutation
  • X-linked Nuclear Protein / genetics
  • alpha-Thalassemia* / complications
  • alpha-Thalassemia* / diagnosis
  • alpha-Thalassemia* / genetics

Substances

  • DNA Helicases
  • X-linked Nuclear Protein
  • ATRX protein, human

Supplementary concepts

  • ATR-X syndrome