A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

April 2011 in “ British Journal of Dermatology ”

Muhammad Farooq, Masaaki Ito, Munekazu Naito, Yutaka Shimomura

monilethrix desmoglein 4 DSG4 gene plakoglobin desmosomes hair shaft differentiation autosomal recessive

The study investigated a Japanese patient with monilethrix, a rare hair condition, and identified novel compound heterozygous mutations in the DSG4 gene: c.624delG (p.M208IfsX4) and c.2468G>A (p.W823X). These mutations were found to affect the DSG4 protein's interaction with plakoglobin, potentially disrupting desmosomes in the hair shaft. This research highlighted the critical role of the DSG4 gene in hair shaft differentiation, contributing to the understanding of the autosomal recessive form of monilethrix.

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A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

Research cited in this study

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

research The Catalog of Human Hair Keratins

research The Catalog of Human Hair Keratins

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

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