Abstract

It is estimated that there are over 100 genes for non-syndromic hearing loss (NSHL). Thus far, 29 genes have been localized for NSHL of which three have been isolated. The goals of this study are: to localize novel NSHL gene(s); establish the geographical distribution of NSHL; refine the genetic region for known NSHL loci; and isolate NSHL genes. NSHL kindreds are being ascertained which can independently establish linkage to localize novel NSHL loci as well as smaller kindreds which can facilitate fine mapping of NSHL loci. Localizing 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 for 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 sequenced in controls and affected individuals from families with a high probability of segregating the NSHL loci of interest. The importance of obtaining good clinical data is stressed in order to develop phenotype/genotype relationships.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000102-35
Application #
6277138
Study Section
Project Start
1997-12-01
Project End
1999-11-30
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
35
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Rockefeller University
Department
Type
DUNS #
071037113
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

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Ansar, Muhammad; Raza, Syed Irfan; Lee, Kwanghyuk et al. (2015) A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52:676-80
Rosenbaum, Michael; Leibel, Rudolph L (2014) 20 years of leptin: role of leptin in energy homeostasis in humans. J Endocrinol 223:T83-96
Ohmatsu, Hanako; Humme, Daniel; Gulati, Nicholas et al. (2014) IL32 is progressively expressed in mycosis fungoides independent of helper T-cell 2 and helper T-cell 9 polarization. Cancer Immunol Res 2:890-900
Alemán, José O; Eusebi, Leonardo H; Ricciardiello, Luigi et al. (2014) Mechanisms of obesity-induced gastrointestinal neoplasia. Gastroenterology 146:357-373
Barbuto, Scott; Idoyaga, Juliana; Vila-Perelló, Miquel et al. (2013) Induction of innate and adaptive immunity by delivery of poly dA:dT to dendritic cells. Nat Chem Biol 9:250-6
Guo, Xiuyang; Dhodapkar, Kavita M (2012) Central and overlapping role of Cathepsin B and inflammasome adaptor ASC in antigen presenting function of human dendritic cells. Hum Immunol 73:871-8
Dustin, Lynn B; Charles, Edgar D (2012) Primary, post-primary and non-specific immunoglobulin M responses in HCV infection. Antivir Ther 17:1449-52
Pendyala, Swaroop; Walker, Jeanne M; Holt, Peter R (2012) A high-fat diet is associated with endotoxemia that originates from the gut. Gastroenterology 142:1100-1101.e2

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