UNASSIGNED: @entity38741 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 @entity9531 ( @entity9531 ) 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 @entity9531 gene mutations in the SM pedigree was also performed to investigate the @entity9531 gene mutation and genotype  -phenotype correlation. Exon  1 of the KRTl7 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, @entity70056 ( @entity70057 ), which was located in exon  1 of the @entity9531 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 @entity9531 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.

@entity38741 multiplex is associated with the XXXX mutation in the KRTl7 gene.

@entity9531 :: ('3872', 'Gene') :: ['keratin  17', 'KRT17'] @entity38741 :: ('MESH:D062685', 'Disease') :: ['Steatocystoma'] @entity70057 :: ('p|SUB|R|94|C', 'ProteinMutation') :: ['R94C'] @entity70056 :: ('c|SUB|C|280|T', 'DNAMutation') :: ['c.280C/T']
@entity70057 :: (p|SUB|R|94|C,ProteinMutation) :: ['R94C']
