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Article

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

American journal of medical genetics. Part A - 1 Sept 2017

Gieldon Laura, Mackenroth Luisa, Betcheva-Krajcir Elitza, Rump Andreas, Beck-Wödl Stefanie, Schallner Jens, Di Donato Nataliya, Schröck Evelin, Tzschach Andreas

Abstract excerpt

Mutations in DLG3 are a rare cause of non-syndromic X-linked intellectual disability (XLID) (MRX90, OMIM *300189). Only ten DLG3 mutations have been reported to date. The majority of female heterozygous mutation carriers was healthy and had random X-inactivation patterns. We report on an XLID family with a novel DLG3 mutation. The 12-year-old male index patient had moderate intellectual disability (ID) and...

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Share to Chromosomes, Human, X
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28777483
DOI: 10.1002/ajmg.a.38348

Genes

DLG3

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.

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