JLE

European Journal of Dermatology

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Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions Volume 15, numéro 5, September-October 2005

Auteurs
Istituto Dermopatico Dell’Immacolata, Rome, Italy, Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street VC-1526, New York, NY 10032, USAFax: (+1) 212 305 7391., Department of Genetics and Development, Columbia University, New York, USA

Atrichia with Papular Lesions (APL) is a rare autosomal recessive disorder characterized by complete hair loss that begins shortly after birth with the development of papular lesions on various regions of the body. Since the establishment of hairless (HR) gene mutations as the cause of this disorder, several patients previously assumed to suffer from alopecia universalis have been subsequently diagnosed with APL. In this study we have identified a novel splicing mutation, IVS8+2T→G, in the hairless gene. This mutation most likely abolishes normal splicing of exon 8 and potentially leads to out-of-frame skipping of this exon and a downstream premature termination codon (PTC). Our findings contribute to the growing body of HR mutations implicated in APL and provide further evidence for the differentiation of APL from alopecia universalis.