期刊
HUMAN GENETICS
卷 130, 期 6, 页码 759-765出版社
SPRINGER
DOI: 10.1007/s00439-011-1018-5
关键词
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资金
- National Institute on Deafness and Other Communication Disorders (NIDCD/NIH) [R00-DC009287-03, DC03594]
- Higher Education Commission, Islamabad
- NIH [N01-HG-65403]
- Higher Education Commission [EMRO/WHO23 COMSTECH]
- Ministry of Science and Technology (MoST, Lahore)
- International Center for Genetic Engineering and Biotechnology, Trieste, Italy [CRP/PAK08-01, 08/009]
- intramural funds [DC00039-14]
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.
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