W M Wu1, Y S Lee. 1. Department of Dermatology, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University, College of Medicine, 123, Ta-pei Road, Kaohsiung Hsien, Taiwan. weimin1970@yahoo.com.tw
Abstract
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 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. CONCLUSIONS: We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.
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 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. CONCLUSIONS: We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.