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Literature DB >> 19030898

A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.

Arunima Chatterjee¹, Rajeev Jalvi, Nishtha Pandey, R Rangasayee, Anuranjan Anand.

Abstract

Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 of its members manifesting ADNSHL, using a genome-wide linkage mapping approach. We found a novel locus DFNA59 between the D11S929 and D11S480 markers in the chromosome location 11p14.2-q12.3. The highest two-point lod score of 5.72 at recombination fraction = 0 was obtained for D11S4152, D11S4154, D11S1301, D11S905 and D11S1344. The critical genomic region comprising about 37 megabases of DNA is proposed to carry a gene for ADNSHL in the family. About 50 cochlear-expressed genes mapping to the region are strong candidates which we propose to examine to identify the gene responsible for the hearing impairment.

Entities: Disease Gene Species

Mesh：

Substances：
Genetic Markers

Year: 2008 PMID： 19030898 DOI： 10.1007/s00439-008-0596-3

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

26 in total

1. DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.

Authors: L Moynihan; M Houseman; V Newton; R Mueller; N Lench
Journal: Eur J Hum Genet Date: 1999 Feb-Mar Impact factor: 4.246

Review 2. Genetic epidemiology of hearing impairment.

Authors: N E Morton
Journal: Ann N Y Acad Sci Date: 1991 Impact factor: 5.691

3. Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors: L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal: Am J Hum Genet Date: 1996-06 Impact factor: 11.025

4. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Authors: Shahid Y Khan; Saima Riazuddin; Muhammad Tariq; Saima Anwar; Muhammad I Shabbir; S Amer Riazuddin; Shaheen N Khan; Tayyab Husnain; Zubair M Ahmed; Thomas B Friedman; Sheikh Riazuddin
Journal: Hum Genet Date: 2006-10-26 Impact factor: 4.132

5. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Authors: Saima Riazuddin; Shaheen N Khan; Zubair M Ahmed; Manju Ghosh; Kyle Caution; Sabiha Nazli; Madhulika Kabra; Ahmad U Zafar; Kevin Chen; Sadaf Naz; Anthony Antonellis; William J Pavan; Eric D Green; Edward R Wilcox; Penelope L Friedman; Robert J Morell; Sheikh Riazuddin; Thomas B Friedman
Journal: Am J Hum Genet Date: 2005-11-21 Impact factor: 11.025

6. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Authors: L A Everett; B Glaser; J C Beck; J R Idol; A Buchs; M Heyman; F Adawi; E Hazani; E Nassir; A D Baxevanis; V C Sheffield; E D Green
Journal: Nat Genet Date: 1997-12 Impact factor: 38.330

7. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Authors: Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Saima Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox
Journal: Am J Hum Genet Date: 2002-07-24 Impact factor: 11.025

A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.

1. DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.

Review 2. Genetic epidemiology of hearing impairment.

3. Parametric and nonparametric linkage analysis: a unified multipoint approach.

4. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

5. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

6. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

7. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

8. Strategies for multilocus linkage analysis in humans.

9. Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.

10. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.

1. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.