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Article

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

The Journal of investigative dermatology - 1 Jun 2006

Shimomura Yutaka, Sakamoto Fumiko, Kariya Naoyuki, Matsunaga Kayoko, Ito Masaaki

Abstract excerpt

The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in the Dsg4 gene have been identified in animal models of hypotrichosis that share a characteristic phenotype called "lanceolate hair". To date, the features of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16439973
DOI: 10.1038/sj.jid.5700113

Genes

DSG4

Variants

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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Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.PMID 16439973Read ↗

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.Semantic proximity Read ↗

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.Semantic proximity Read ↗

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.Semantic proximity Read ↗

More than one gene involved in monilethrix: intracellular but also extracellular players.Semantic proximity Read ↗

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese familiesSemantic proximity Read ↗

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.Semantic proximity Read ↗

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.Semantic proximity Read ↗

Congenital hair loss disorders: Rare, but not too rareSemantic proximity Read ↗

A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.Semantic proximity Read ↗

[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].Semantic proximity Read ↗

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.Semantic proximity Read ↗

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Semantic proximity Read ↗

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