Abstract

The goals of this study are to localize novel non-syndromic hearing loss (NSHL) genes and to isolate some of these genes. NSHL kindreds are being ascertained by the applicants. A database will be developed which contains lod scores and haplotype data from current NSHL studies in addition to integrated genetic maps of marker loci in the region of NSHL genes. The data will be made publicly available through the study's web page (http://linkage.rockefeller.edu/nshl). Localizing and isolating genes responsible for NSHL is challenging due to extreme genetic heterogeneity. The genetic regions for NSHL loci are often imprecise, due to the limited number of families available for study of each locus. Therefore, mutation detection in candidate genes will be used to isolate NSHL genes. A gene will be considered a candidate if it meets the following criteria: maps to the physical region of a NSHL locus; and has tissue specific expression (i.e. cochlea). Candidate genes will be sequences in controls and affected individuals from families with a high probability of segregating the NSHL loci of interest.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
First Independent Research Support & Transition (FIRST) Awards (R29)
Project #
5R29DC003594-02
Application #
6043408
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1998-08-01
Project End
2003-07-31
Budget Start
1999-08-01
Budget End
2000-07-31
Support Year
2
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Rockefeller University
Department
Biostatistics & Other Math Sci
Type
Other Domestic Higher Education
DUNS #
071037113
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Liaqat, Khurram; Chiu, Ilene; Lee, Kwanghyuk et al. (2018) Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. J Hum Genet 63:1099-1107
Wang, Gao T; Zhang, Di; Li, Biao et al. (2015) Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet 23:1739-43
Li, Biao; Wang, Gao T; Leal, Suzanne M (2015) Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits. Bioinformatics 31:3706-8
Santos-Cortez, Regie Lyn P; Lee, Kwanghyuk; Azeem, Zahid et al. (2013) Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93:132-40
Lee, K; Chiu, I; Santos-Cortez, R L P et al. (2013) Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. Clin Genet 84:294-6
Lee, K; Khan, S; Islam, A et al. (2012) Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 82:56-63
Lee, Kwanghyuk; Ansar, Muhammad; Andrade, Paula B et al. (2012) Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. Am J Med Genet A 158A:315-21
Lee, Kwanghyuk; Khan, Saadullah; Ansar, Muhammad et al. (2011) A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genet Res Int 2011:368915
Basit, Sulman; Lee, Kwanghyuk; Habib, Rabia et al. (2011) DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2. Hum Genet 129:379-85
Rehman, Atteeq U; Gul, Khitab; Morell, Robert J et al. (2011) Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet 130:759-65

Showing the most recent 10 out of 14 publications