The goal of this proposal is to establish a large respiratory of DNA samples from 2,000 deaf probands in multiplex and simplex sibships. A sequential screening strategy will then be used to identify new genes for deafness. Candidate genes to be screened will include the human orthologs of murine genes for deafness and other members of gene families in which some are known to be the cause of deafness. The research subjects will be ascertained from an Annual National Survey of Deaf Students at Gallaudet University along with students from the University. The research will also yield important information on the distribution of mutations at currently recognized genes for syndromic and non- syndromic deafness. Using available information on relevant outcome variables such as audiograms and the use of hearing aids and cochlear implants, these data will permit a search for clinically relevant genotype-phenotype correlations. The resulting data will be used to search for ethnic differences in the frequency of genes for deafness as well as secular trends in the incidence of deafness. The frequency of common forms of deafness in multiplex and simplex sibships will be used as index traits to estimate the relative frequency of deafness in the Annual Survey population. Finally, computer modeling will be employed to explore the consequences of non-random mating among the deaf and to test the hypothesis that assortative mating has contributed to the high frequency of a common form of genetic deafness caused by mutations in the Connexin 26 gene.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC004293-02
Application #
6379532
Study Section
Genome Study Section (GNM)
Program Officer
Watson, Bracie
Project Start
2000-07-01
Project End
2005-06-30
Budget Start
2001-07-01
Budget End
2002-06-30
Support Year
2
Fiscal Year
2001
Total Cost
$451,474
Indirect Cost
Name
Virginia Commonwealth University
Department
Genetics
Type
Schools of Medicine
DUNS #
City
Richmond
State
VA
Country
United States
Zip Code
23298
Yelverton, Joshua C; Dodson, Kelley M; Arnos, Kathleen et al. (2013) The clinical and audiologic features of hearing loss due to mitochondrial mutations: response to editor. Otolaryngol Head Neck Surg 149:795-6
Yelverton, Joshua C; Arnos, Kathleen; Xia, Xia-Juan et al. (2013) The clinical and audiologic features of hearing loss due to mitochondrial mutations. Otolaryngol Head Neck Surg 148:1017-22
Orten, Dana J; Fischer, Stephanie M; Sorensen, Jessica L et al. (2008) Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 29:537-44
Withrow, Kara A; Burton, Sarah; Arnos, Kathleen S et al. (2008) Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. J Genet Couns 17:252-60
Morton, Cynthia C; Nance, Walter E (2006) Newborn hearing screening--a silent revolution. N Engl J Med 354:2151-64
Norris, Virginia W; Arnos, Kathleen S; Hanks, Wendy D et al. (2006) Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 27:732-41
Taneja, Patricia Rubal; Pandya, Arti; Foley, Debra L et al. (2004) Attitudes of deaf individuals towards genetic testing. Am J Med Genet A 130A:17-21
Park, H-J; Shaukat, S; Liu, X-Z et al. (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40:242-8
Pandya, Arti; Arnos, Kathleen S; Xia, Xia J et al. (2003) Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5:295-303
Nance, Walter E (2003) The genetics of deafness. Ment Retard Dev Disabil Res Rev 9:109-19

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