Steatocystoma multiplex is associated with the R94C mutation in the KRT17 gene

作者：Liu, Qiao; Wu, Weiwei^*; Lu, Jiejie; Wang, Ping; Qiao, Feng

来源：Molecular Medicine Reports, 2015, 12(4): 5072-5076.

DOI：10.3892/mmr.2015.4063

• steatocystoma multiplex
• mutation
• keratin 17 gene

Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin-colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four-generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree was also performed to investigate the KRT17 gene mutation and genotype-phenotype correlation. Exon 1 of the KRT17 gene was amplified using polymerase chain reaction (PCR) from genomic DNA obtained, which was obtained from 25 family members in the selected Chinese pedigree and from 100 unrelated control individuals. The DNA was then subjected to automatic DNA sequencing. Genealogical investigations demonstrated an autosomal dominant pattern, and direct sequencing of the PCR product revealed a heterozygous mutation, c.280C/T (R94C), which was located in exon 1 of the KRT17 gene in all 10 affected family members. The mutation was not identified in the 15 unaffected family members or in the 100 unrelated control individuals. Therefore, the present study identified a causative mutation in the KRT17 gene in a large Chinese SM pedigree, exhibiting autosomal dominance. A review of the literature suggested that, in addition to the mutation factor, other modifying factors contribute to the phenotype of familial SM.

• 出版日期2015-10
• 单位海南省人民医院