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Article

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

American journal of medical genetics. Part A - 1 Aug 2009

Reish Orit, Fullston Tod, Regev Miriam, Heyman Eli, Gecz Jozef

Abstract excerpt

The Aristaless Related Homeobox (ARX) gene is a Q(50) paired homeobox gene. These genes are important regulators of essential events during vertebrate embryogenesis, including the development of the central and peripheral nervous system. Mutations in ARX have been identified in at least 82 different families and sporadic cases, and are responsible for at least 8 clinically distinct disorders. The recurrent 24 bp...

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Source

Identifiers

PMID: 19606478
DOI: 10.1002/ajmg.a.32842

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.PMID 19606478Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.Semantic proximity Read ↗

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Semantic proximity Read ↗

Expansion of the ARX spectrum.Semantic proximity Read ↗

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

Expanding the phenotype associated with missense mutations of the ARX gene.Semantic proximity Read ↗

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.Semantic proximity Read ↗

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.Semantic proximity Read ↗

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