The British journal of dermatology · 2010
Autosomal dominant multiple syringomas linked to chromosome 16q22.
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Wu W M, Lee Y S
Аннотация
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.
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.