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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1002/jmor.1051670110

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1432-1203

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Mutations of Emphasis Type="Italic"GIPC3/Emphas

Authors: Atteeq U Rehman Khitab Gul Robert J Morell Kwanghyuk Lee Zubair M Ahmed Saima Riazuddin Rana A Ali Mohsin Shahzad Ateequl Jaleel Paula B Andrade Shaheen N Khan Saadullah Khan Carmen C Brewer Wasim Ahmad Suzanne M Leal Sheikh Riazuddin Thomas B Friedman
Publish Date: 2011/06/10
Volume: 130, Issue: 6, Pages: 759-765
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Abstract

A missense mutation of Gipc3 was previously reported to cause agerelated 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 408 Mb and 104 genes This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81We thank the families who participated in this study and Andrew J Griffith Dennis Drayna and Julie M Schultz for valuable suggestions This work was supported by grants from the National Institute on Deafness and Other Communication Disorders NIDCD/NIH R00DC00928703 to ZMA from the Higher Education Commission Islamabad to WA and from NIDCD/NIH DC03594 to SML Genotyping services were provided to SML by the Center for Inherited Disease Research through a fully funded federal contract from the NIH to The Johns Hopkins University Contract Number N01HG65403 Work in Pakistan was also supported by the Higher Education Commission EMRO/WHO23 COMSTECH and Ministry of Science and Technology MoST Lahore and the International Center for Genetic Engineering and Biotechnology Trieste Italy under project CRP/PAK0801 Contract no 08/009 to ShR Work at NIDCD/NIH was supported by intramural funds DC0003914 to TBF

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