Literature DB >> 11973626

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mirna Mustapha1, Eliane Chouery, Sébastien Chardenoux, Mohamed Naboulsi, Joël Paronnaud, Arnaud Lemainque, André Mégarbané, Jacques Loiselet, Dominique Weil, Mark Lathrop, Christine Petit.   

Abstract

We report the identification of a novel locus responsible for an autosomal recessive form of hearing loss (DFNB) segregating in a Palestinian consanguineous family from Jordan. The affected individuals suffer from profound prelingual sensorineural hearing impairment. A genetic linkage with polymorphic markers surrounding D9S1776 was detected, thereby identifying a novel deafness locus, DFNB31. This locus could be assigned to a 9q32-34 region of 15 cM between markers D9S289 and D9S1881. The whirler (wi) mouse mutant, characterised by deafness and circling behaviour, maps to the corresponding region on the murine chromosome 4, thus suggesting that DFNB31 and whirler may result from orthologous gene defects.

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Year:  2002        PMID： 11973626     DOI： 10.1038/sj.ejhg.5200780

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  16 in total

1.  A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Authors:  Inga Ebermann; Hendrik P N Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen Lamprecht; Bernhard Jurklies; José M Millán; Elena Aller; Diana Mitter; Hanno Bolz
Journal:  Hum Genet       Date:  2006-12-15       Impact factor: 4.132

2.  Whirlin increases TRPV1 channel expression and cellular stability.

Authors:  Maria Grazia Ciardo; Amparo Andrés-Bordería; Natalia Cuesta; Pierluigi Valente; María Camprubí-Robles; Jun Yang; Rosa Planells-Cases; Antonio Ferrer-Montiel
Journal:  Biochim Biophys Acta       Date:  2015-10-26

3.  GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity.

Authors:  Abigail L D Tadenev; Anil Akturk; Nicholas Devanney; Pranav Dinesh Mathur; Anna M Clark; Jun Yang; Basile Tarchini
Journal:  Curr Biol       Date:  2019-02-28       Impact factor: 10.834

4.  Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Authors:  M I Shabbir; Z M Ahmed; S Y Khan; Saima Riazuddin; A M Waryah; S N Khan; R D Camps; M Ghosh; M Kabra; I A Belyantseva; T B Friedman; Sheikh Riazuddin
Journal:  J Med Genet       Date:  2006-02-03       Impact factor: 6.318

5.  Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Authors:  Hashem Shahin; Tom Walsh; Tama Sobe; Judeh Abu Sa'ed; Amal Abu Rayan; Eric D Lynch; Ming K Lee; Karen B Avraham; Mary-Claire King; Moein Kanaan
Journal:  Am J Hum Genet       Date:  2005-11-21       Impact factor: 11.025

6.  Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis.

Authors:  A Barić; L Brčić; S Gračan; V Torlak Lovrić; I Gunjača; M Šimunac; M Brekalo; M Boban; O Polašek; M Barbalić; T Zemunik; A Punda; V Boraska Perica
Journal:  J Endocrinol Invest       Date:  2017-04-05       Impact factor: 4.256

7.  RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.

Authors:  Rachel N Wright; Dong-Hyun Hong; Brian Perkins
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-03-21       Impact factor: 4.799

8.  DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

Authors:  Shahid Yar Khan; Saima Riazuddin; Mohsin Shahzad; Nazir Ahmed; Ahmad Usman Zafar; Atteeq Ur Rehman; Robert J Morell; Andrew J Griffith; Zubair M Ahmed; Sheikh Riazuddin; Thomas B Friedman
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

9.  Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Authors:  Salma Ben-Salem; Heidi L Rehm; Patrick J Willems; Zakaria A Tamimi; Hammadi Ayadi; Bassam R Ali; Lihadh Al-Gazali
Journal:  Mol Biol Rep       Date:  2013-11-06       Impact factor: 2.316

10.  Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.

Authors:  Wade W Chien; Kevin Isgrig; Soumen Roy; Inna A Belyantseva; Meghan C Drummond; Lindsey A May; Tracy S Fitzgerald; Thomas B Friedman; Lisa L Cunningham
Journal:  Mol Ther       Date:  2015-08-26       Impact factor: 11.454
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