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

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.