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Article

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

Journal of autism and developmental disorders - 1 Jan 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 35593993
DOI: 10.1007/s10803-022-05588-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.PMID 35593993Read ↗

Evidence of Autism Spectrum Disorder Caused By A Mutation In ATRX GeneSemantic proximity Read ↗

ATR-X syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

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Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.Semantic proximity Read ↗

Alpha thalassaemia-mental retardation, X linked.Semantic proximity Read ↗

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

New heritable ATRX mutation identified by whole exome sequencing and reviewSemantic proximity Read ↗

Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delaySemantic proximity Read ↗

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A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.Semantic proximity Read ↗

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Semantic proximity Read ↗

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