Autosomal dominant multiple syringomas linked to chromosome 16q22
1Department 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
Multiple syringomas, a common skin condition, are inherited in an autosomal dominant manner. Genetic analysis located the responsible gene to chromosome 16q22, advancing understanding of this disorder.
Area of Science:
- Dermatology
- Medical Genetics
- Human Genetics
Background:
- Multiple syringomas present as skin-colored papules around the eyes, typically emerging in early adulthood.
- Previous research suggests a hereditary component, with some cases exhibiting autosomal dominant inheritance patterns.
Purpose of the Study:
- To pinpoint the specific genetic factors contributing to the development of multiple syringomas.
- To identify the chromosomal location of the gene responsible for familial multiple syringomas.
Main Methods:
- Genome-wide single-nucleotide polymorphism (SNP) screening was employed for linkage analysis.
- Seven families with multiple affected members were recruited, comprising 24 affected and 11 unaffected individuals.
Main Results:
- Linkage analysis identified a shared locus on chromosome 16q22 across all seven families.
- A logarithm of odds (LOD) score of 4.51 confirmed the linkage, narrowing the candidate region to a 6.63 cM interval containing 143 genes.
Conclusions:
- This study confirms that multiple syringomas represent an autosomal dominant disorder.
- The precise genomic location of the gene implicated in multiple syringomas has been determined to chromosome 16q22.
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