@entity26764 is a causative gene of autosomal dominant ( @entity26764 /A12) and autosomal recessive ( @entity26764 ) @entity6363 ( @entity6363 ). Mutations in @entity26764 account for 4% of all @entity6363 cases in some populations and are thus thought to be one of the major causes of @entity6363 . A genotype-phenotype correlation for autosomal dominant mutations in the @entity26764 gene has been proposed. Two families (SB146 and SB149), which segregated moderate @entity6363 in an autosomal dominant fashion, were included in this study. We performed targeted resequencing of 134 known @entity2319 genes (TRS-134) and bioinformatics analyses to find causative mutations for @entity6363 in these 2 families. Through TRS-134, we detected 2 novel mutations, i.e. @entity68507 ( @entity68508 ) and @entity68509 ( @entity68510 ), in the @entity26764 gene. These mutations cosegregated with @entity6363 in the studied families and were not detected in normal controls. The mutations @entity68507 and @entity68509 reside in the @entity2880 factor type D3-D4 (vWFD3-D4) interdomain of the zonadhesin (ZA) domain and the zona pellucida (ZP) domain, respectively. @entity68508 is the first mutation detected in the vWFD3-D4 interdomain of the ZA domain. The mutations @entity68508 and @entity68510 were associated with stable high-frequency and mid-frequency @entity393 , respectively. Notably, the cysteine residue mutated to phenylalanine in SB146 was not related to progression of @entity1274 , which argues against the previous hypothesis. Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency @entity6363 in Koreans. This clinical feature makes subjects with the missense mutation in the vWFD3-D4 interdomain of @entity26764 potentially good candidates for middle ear implantation.    2014 S. Karger AG, Basel.

Novel @entity26764 Mutations Identified in Stable XXXX and Their Clinical Implications.

@entity68508 :: ('p|SUB|C|1332|F', 'ProteinMutation') :: ['p.C1332F'] @entity68510 :: ('p|SUB|T|1873|I', 'ProteinMutation') :: ['p.T1873I'] @entity6363 :: ('MESH:C537845', 'Disease') :: ['autosomal dominant NSHL', 'NSHL', 'nonsyndromic sensorineural hearing loss'] @entity2319 :: ('MESH:D003638', 'Disease') :: ['deafness'] @entity1274 :: ('MESH:D006319', 'Disease') :: ['sensorineural hearing loss'] @entity26764 :: ('7007', 'Gene') :: ['DFNB 21', 'DFNA8', 'TECTA'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss'] @entity2880 :: ('MESH:D014842', 'Disease') :: ['von Willebrand'] @entity68507 :: ('c|SUB|G|3995|T', 'DNAMutation') :: ['c.3995G>T'] @entity68509 :: ('c|SUB|C|5618|T', 'DNAMutation') :: ['c.5618C>T']
@entity1274 :: (MESH:D006319,Disease) :: ['Sensorineural Hearing Loss']
