Literature DB >> 8634715

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.

P K Jain1, K Fukushima, D Deshmukh, A Ramesh, E Thomas, A K Lalwani, S Kumar, B Plopis, H Skarka, C R Srisailapathy.   

Abstract

A locus for recessive neurosensory nonsyndromic hearing impairment maps to chromosome 9q13-q21 in two regionally separate consanguineous families from India. Each family demonstrates a LOD score greater than 4.5 to this region. D9S15, tightly linked to the Friedreich's ataxia locus, a region that has been defined with over 1 Mb of YAC contig information and several expressed sequences, is one of the flanking markers. In mice, the deafness (dn) locus maps to mouse chromosome 19 and flanking loci are syntenic to human chromosome 9q11-q21. The dn mouse is a potential model for the hearing impairment found in both these families.

Entities:  

Mesh：

Year:  1995        PMID： 8634715     DOI： 10.1093/hmg/4.12.2391

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


  17 in total

1.  Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Authors:  B Bonné-Tamir; A L DeStefano; C E Briggs; R Adair; B Franklyn; S Weiss; M Korostishevsky; M Frydman; C T Baldwin; L A Farrer
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Tmc proteins are essential for zebrafish hearing where Tmc1 is not obligatory.

Authors:  Zongwei Chen; Shaoyuan Zhu; Kayla Kindig; Shengxuan Wang; Shih-Wei Chou; Robin Woods Davis; Michael R Dercoli; Hannah Weaver; Ruben Stepanyan; Brian M McDermott
Journal:  Hum Mol Genet       Date:  2020-07-29       Impact factor: 6.150

3.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Authors:  E Gausden; B Coyle; J A Armour; R Coffey; A Grossman; G R Fraser; R M Winter; M E Pembrey; P Kendall-Taylor; D Stephens; L M Luxon; P D Phelps; W Reardon; R Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

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.  Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells?

Authors:  David P Corey; Jeffrey R Holt
Journal:  J Neurosci       Date:  2016-10-26       Impact factor: 6.167

Review 6.  Distinct functions of TMC channels: a comparative overview.

Authors:  Xiaomin Yue; Yi Sheng; Lijun Kang; Rui Xiao
Journal:  Cell Mol Life Sci       Date:  2019-10-04       Impact factor: 9.261

7.  Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Authors:  Ayesha Imtiaz; Azra Maqsood; Atteeq U Rehman; Robert J Morell; Jeffrey R Holt; Thomas B Friedman; Sadaf Naz
Journal:  Neurogenetics       Date:  2016-02-16       Impact factor: 2.660

8.  A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

Authors:  G Van Camp; H Kunst; K Flothmann; W McGuirt; J Wauters; H Marres; M Verstreken; I N Bespalova; M Burmeister; P H Van de Heyning; R J Smith; P J Willems; C W Cremers; M M Lesperance
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

9.  Genetics of deafness in India.

Authors:  Manju Ghosh; R Vijaya; Madhulika Kabra
Journal:  Indian J Pediatr       Date:  2004-06       Impact factor: 1.967

10.  Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Authors:  N Hilgert; F Alasti; N Dieltjens; B Pawlik; B Wollnik; O Uyguner; S Delmaghani; D Weil; C Petit; E Danis; T Yang; E Pandelia; M B Petersen; D Goossens; J D Favero; M H Sanati; R J H Smith; G Van Camp
Journal:  Clin Genet       Date:  2008-07-09       Impact factor: 4.438
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.