Narrowing of the Hailey–Hailey Disease Gene Region on Chromosome 3q and Identification of One Kindred with a Deletion in This Region

Abstract

Hailey-Hailey disease is a cutaneous abnormality transmitted as an autosomal dominant trait in which impaired interkeratinocyte adhesion produces recurrent blisters in characteristic skin sites. We report here a confirmation of the initial mapping of the mutant gene to chromosome 3q in an additional seven kindreds, narrowing of the candidate region to the sequences flanked by D3S1589 and D3S1541, and the finding in one family of a genomic DNA deletion whose centromeric end is located between these two flanking markers.