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

Studysummary This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

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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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