Autosomal dominant multiple syringomas linked to chromosome 16q22.

Abstract

The condition of multiple syringomas is a common skin problem that begins in early adulthood and is characterized by the appearance of skin-coloured papules around the eyes. Previous reports have demonstrated that some cases of multiple syringomas are inherited in an autosomal dominant manner. To identify the genetic factors involved in the development of multiple syringomas. We recruited seven families including multiple family members with multiple syringomas. Our sample included 24 affected individuals and 11 unaffected individuals. We performed genome-wide single-nucleotide polymorphism screening for linkage analysis. Whole-genome screening and subsequent analysis revealed that all of the seven families were linked at a locus on chromosome 16q22. A significant logarithm of the odds score of 4.51 with theta of 0.00 confirmed the mapping result. The analysis of critical recombinants defined the locus as a 6.63 cM interval in which 143 genes could be identified. We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.