Literature DB >> 17166180

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

A Tlili1, S Masmoudi, H Dhouib, S Bouaziz, I Ben Rebeh, J Chouchen, K Turki, Z Benzina, I Charfedine, M Drira, H Ayadi.   

Abstract

Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.

Entities:  

Mesh:

Year:  2006        PMID: 17166180     DOI: 10.1111/j.1469-1809.2006.00337.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN: 0003-4800            Impact factor:   1.670


  12 in total

1.  The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Authors:  Majida Charif; Safaa Bounaceur; Omar Abidi; Halima Nahili; Hassan Rouba; Mostafa Kandil; Redouane Boulouiz; Abdelhamid Barakat
Journal:  Mol Biol Rep       Date:  2012-10-08       Impact factor: 2.316

2.  Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

Authors:  Philipp G Sand; Berthold Langguth; Tobias Kleinjung
Journal:  Behav Brain Funct       Date:  2011-09-07       Impact factor: 3.759

3.  [A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter].

Authors:  D Bönsch; C-M Schmidt; P Scheer; J Bohlender; C Neumann; A Am Zehnhoff-Dinnesen; T Deufel
Journal:  HNO       Date:  2009-04       Impact factor: 1.284

4.  [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

Authors:  D Bönsch; C M Schmidt; P Scheer; J Bohlender; C Neumann; A am Zehnhoff-Dinnesen; T Deufel
Journal:  HNO       Date:  2008-02       Impact factor: 1.284

Review 5.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

6.  Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt).

Authors:  Timothy Erickson; Clive P Morgan; Jennifer Olt; Katherine Hardy; Elisabeth Busch-Nentwich; Reo Maeda; Rachel Clemens; Jocelyn F Krey; Alex Nechiporuk; Peter G Barr-Gillespie; Walter Marcotti; Teresa Nicolson
Journal:  Elife       Date:  2017-05-23       Impact factor: 8.140

Review 7.  Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.

Authors:  Amal Souissi; Abdullah A Gibriel; Saber Masmoudi
Journal:  Hum Genet       Date:  2021-07-15       Impact factor: 4.132

8.  Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Authors:  Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; S Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Journal:  Nat Genet       Date:  2008-10-26       Impact factor: 38.330

9.  Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Authors:  Ma Tabatabaiefar; F Alasti; M Montazer Zohour; L Shariati; E Farrokhi; Dd Farhud; Gv Camp; Mr Noori-Daloii; M Hashemzadeh Chaleshtori
Journal:  Iran J Public Health       Date:  2011-06-30       Impact factor: 1.429

10.  Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss.

Authors:  Seyyed Hossein Taghizadeh; Seyyed Reza Kazeminezhad; Seyyed Ali Asghar Sefidgar; Nasrin Yazdanpanahi; Mohammad Amin Tabatabaeifar; Ahmad Yousefi; Seyyed Mohammad Lesani; Marziyeh Abolhasani; Morteza Hashemzadeh Chaleshtori
Journal:  Int J Mol Cell Med       Date:  2013
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.