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Article

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.

European journal of human genetics : EJHG - 1 Aug 2016

Ansar Muhammad, Jan Abid, Santos-Cortez Regie Lyn P, Wang Xin, Suliman Muhammad, Acharya Anushree, Habib Rabia, Abbe Izoduwa, Ali Ghazanfar, Lee Kwanghyuk, Smith Joshua D, Nickerson Deborah A, Shendure Jay, Bamshad Michael J, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

Alopecia with mental retardation (APMR) is a very rare disorder. In this study, we report on a consanguineous Pakistani family (AP91) with mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities. Using homozygosity mapping, linkage analysis and exome sequencing, we identified a novel rare missense variant c.898G>A (p.(Glu300Lys)) in ITGB6, which co-segregates with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26695873
DOI: 10.1038/ejhg.2015.260
PMCID: PMC4970676

Genes

ITGB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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