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Article

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

BMC medical genetics - 25 Apr 2005

Stepp Monica L, Cason A Lauren, Finnis Merran, Mangelsdorf Marie, Holinski-Feder Elke, Macgregor David, MacMillan Andrée, Holden Jeanette J A, Gecz Jozef, Stevenson Roger E, Schwartz Charles E

Abstract excerpt

BACKGROUND: X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation. METHODS: Genomic DNA...

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Share to Chromosomes, Human, X
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15850492
DOI: 10.1186/1471-2350-6-16
PMCID: PMC1142315

Genes

ARX

Provenance

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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