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Autosomal dominant multiple syringomas linked to chromosome 16q22
Author(s) -
Wu W.M.,
Lee Y.S.
Publication year - 2010
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2010.09677.x
Subject(s) - locus (genetics) , genetics , single nucleotide polymorphism , genetic linkage , biology , odds ratio , gene , medicine , pathology , genotype
Summary Background 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. Objective To identify the genetic factors involved in the development of multiple syringomas. Methods 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. Results 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 θ 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. Conclusions We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.