Literature DB >> 8817345

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.

E N Manolis1, N Yandavi, J B Nadol, R D Eavey, M McKenna, S Rosenbaum, U Khetarpal, C Halpin, S N Merchant, G M Duyk, C MacRae, C E Seidman, J G Seidman.   

Abstract

We report a novel locus responsible for postlingual progressive sensorineural hearing loss (designated DFNA9) that maps to chromosome 14q12-13. A large kindred with autosomal dominant transmission of non-syndromic hearing loss was clinically studied. Hearing in affected individuals deteriorated at approximately 20 years of age and progressed to anacusis in the fifth decade. A random genome-wide search using polymorphic short tandem repeats demonstrated linkage with D14S121 (maximum two point LOD score = 6.19, theta = 0). Haplotype analysis of recombination events defined a 9 cM disease interval, between D14S252 and D14S49.

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Year:  1996        PMID： 8817345     DOI： 10.1093/hmg/5.7.1047

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  21 in total

1.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors:  K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Molecular markers for cell types of the inner ear and candidate genes for hearing disorders.

Authors:  S Heller; C A Sheane; Z Javed; A J Hudspeth
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

Review 3.  Genetic disorders of the vestibular system.

Authors:  Robert W Eppsteiner; Richard J H Smith
Journal:  Curr Opin Otolaryngol Head Neck Surg       Date:  2011-10       Impact factor: 2.064

Review 4.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

5.  Extralabyrinthine manifestations of DFNA9.

Authors:  Andrew A McCall; Fred H Linthicum; Jennifer T O'Malley; Joe C Adams; Saumil N Merchant; Marc K Bassim; Robert Gellibolian; Jose N Fayad
Journal:  J Assoc Res Otolaryngol       Date:  2010-11-04

6.  A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Authors:  D Yan; X Ke; S H Blanton; X M Ouyang; A Pandya; L L Du; W E Nance; X Z Liu
Journal:  J Med Genet       Date:  2005-06-15       Impact factor: 6.318

7.  Murine autoimmune hearing loss mediated by CD4+ T cells specific for inner ear peptides.

Authors:  C Arturo Solares; Andrea E Edling; Justin M Johnson; Moo-Jin Baek; Keiko Hirose; Gordon B Hughes; Vincent K Tuohy
Journal:  J Clin Invest       Date:  2004-04       Impact factor: 14.808

8.  Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.

Authors:  P K Kommareddi; T S Nair; Y Raphael; S A Telian; A H Kim; H A Arts; H K El-Kashlan; T E Carey
Journal:  J Assoc Res Otolaryngol       Date:  2007-10-10

9.  Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity.

Authors:  Bénédicte F Py; Santiago F Gonzalez; Kai Long; Mi-Sung Kim; Young-A Kim; Hong Zhu; Jianhua Yao; Nicolas Degauque; Régis Villet; Patrick Ymele-Leki; Mihaela Gadjeva; Gerald B Pier; Michael C Carroll; Junying Yuan
Journal:  Immunity       Date:  2013-05-16       Impact factor: 31.745

10.  Linkage analysis in Usher syndrome type I (USH1) families from Spain.

Authors:  C Espinós; C Nájera; J M Millán; C Ayuso; M Baiget; H Pérez-Garrigues; O Rodrigo; C Vilela; M Beneyto
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318
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