Alopecia Research Today is a free monthly online journal that collates and summarizes the latest research about Alopecia, including details on hair loss, baldness, treatment, causes, prevention.

Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.

Ashoor GG, Greenstein RM, Lam H, Martinez-Mir A, Zlotogorski A, Christiano AM

Genetic Skin Disease Group, St. John's Institute of Dermatology, The Guy's King's College and St. Thomas' Hospital Medical School, London, UK.

BACKGROUND: Atrichia with papular lesions (APL) is a rare autosomal recessive condition resulting from mutations in the hairless (HR) gene. OBJECTIVE: In the present study, we investigated the molecular basis of APL in a non-consanguineous Korean family. METHODS: Direct automated DNA sequencing of the HR gene and restriction digestion analysis were used to identify and confirm the mutation in our proband. RESULTS: Sequencing of the HR gene revealed two novel nonsense mutations in exons 2 and 4 which were subsequently confirmed via enzymatic restriction. No mutations have previously been detected in this population. CONCLUSION: The growing number of heterozygous mutations in non-consanguineous pedigrees supports the hypothesis that APL is more common than previously expected.

Published 26 September 2005 in J Dermatol Sci, 40(1): 29-33.
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