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

Content Provider	Springer Nature Link
Author	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.
Copyright Year	2011
Abstract	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.
Starting Page	759
Ending Page	765
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	130
Issue Number	6
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-06-10
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Human Genetics Molecular Medicine Gene Function
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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