Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

August 2005 in “ Journal of Investigative Dermatology Symposium Proceedings ”

Hisham Bazzi, Amalia Martı́nez-Mir, Ana Kljuic, Angela M. Christiano

desmoglein 4 DSG4 localized autosomal recessive hypotrichosis LAH hair follicle development desmosomal cadherins cell adhesion

Studysummary This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

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The study identified mutations in the desmoglein 4 gene (DSG4) as the cause of localized autosomal recessive hypotrichosis (LAH) in humans, mice, and rats, characterized by fragile, sparse hair on the scalp, trunk, and extremities. In Pakistani families, an in-frame deletion mutation (EX5_8del) in DSG4 was found, affecting critical extracellular domains necessary for cell adhesion. Similar mutations were identified in mouse and rat models, highlighting the role of desmosomal cadherins in hair follicle development and disease.

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research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat

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This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

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A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

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This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.