Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

作者：Rehman Atteeq U; Gul Khitab; Morell Robert J; Lee Kwanghyuk; Ahmed Zubair M; Riazuddin Saima; Ali Rana A; Shahzad Mohsin; Jaleel Ateeq ul; Andrade Paula B; Khan Shaheen N; Khan Saadullah; Brewer Carmen C; Ahmad Wasim; Leal Suzanne M; Riazuddin Sheikh; Friedman Thomas B^*

来源：Human Genetics, 2011, 130(6): 759-765.

DOI：10.1007/s00439-011-1018-5

A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81.

• 出版日期2011-12