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Literature DB >> 15538632

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Khushnooda Ramzan¹, Rehan S Shaikh, Jamil Ahmad, Shaheen N Khan, Saima Riazuddin, Zubair M Ahmed, Thomas B Friedman, Edward R Wilcox, Sheikh Riazuddin.

Abstract

Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus, DFNB49. A maximum two-point lod score of 4.44 and 5.94 at recombination fraction theta=0 was obtained for markers D5S2055 and D5S424 in families PKDF041 and PKDF141, respectively. Haplotype analysis revealed an 11 cM linkage region flanked by markers D5S647 (74.07 cM) and D5S1501 (85.25 cM). Candidate deafness genes in this region include SLC30A5, OCLN, GTF2H2, and BTF3, encoding solute carrier family 30 (zinc transporter) member 5, occludin, RNA polymerase II transcription initiation factor, and basic transcription factor 3, respectively. Sequence analysis of the coding exons of SLC30A5 in DNA samples from two affected individuals of families PKDF041 and PKDF141 revealed no mutation. The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 2004 PMID： 15538632 DOI： 10.1007/s00439-004-1205-8

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

29 in total

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Journal: J Med Genet Date: 2003-04 Impact factor: 6.318

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Journal: Mol Biol Cell Date: 2000-12 Impact factor: 4.138

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Journal: Nat Genet Date: 1999-06 Impact factor: 38.330

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Journal: Hum Genet Date: 1999-02 Impact factor: 4.132

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Journal: Nat Genet Date: 1997-12 Impact factor: 38.330

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Journal: Science Date: 1998-03-20 Impact factor: 47.728

10. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Authors: Zubair M Ahmed; Tenesha N Smith; Saima Riazuddin; Tomoko Makishima; Manju Ghosh; Sirosh Bokhari; Puthezhath S N Menon; Dilip Deshmukh; Andrew J Griffith; Sheikh Riazuddin; Thomas B Friedman; Edward R Wilcox
Journal: Hum Genet Date: 2002-05-03 Impact factor: 4.132

10 in total

1. Tricellulin is a tight-junction protein necessary for hearing.

Authors: Saima Riazuddin; Zubair M Ahmed; Alan S Fanning; Ayala Lagziel; Shin-ichiro Kitajiri; Khushnooda Ramzan; Shaheen N Khan; Parna Chattaraj; Penelope L Friedman; James M Anderson; Inna A Belyantseva; Andrew Forge; Sheikh Riazuddin; Thomas B Friedman
Journal: Am J Hum Genet Date: 2006-10-31 Impact factor: 11.025

2. 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

3. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

Authors: N Hilgert; K Kahrizi; N Dieltjens; N Bazazzadegan; H Najmabadi; R J H Smith; G Van Camp
Journal: J Med Genet Date: 2009-04 Impact factor: 6.318

4. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

Authors: Muhammad S Chishti; Attya Bhatti; Sana Tamim; Kwanghyuk Lee; Merry-Lynn McDonald; Suzanne M Leal; Wasim Ahmad
Journal: J Hum Genet Date: 2007-12-15 Impact factor: 3.172

Review 5. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Authors: Anushree Acharya; Isabelle Schrauwen; Suzanne M Leal
Journal: Hum Genet Date: 2021-07-22 Impact factor: 4.132

6. MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Authors: Ivica Mašindová; Andrea Šoltýsová; Lukáš Varga; Petra Mátyás; Andrej Ficek; Miloslava Hučková; Martina Sůrová; Dana Šafka-Brožková; Saima Anwar; Judit Bene; Slavomír Straka; Ingrid Janicsek; Zubair M Ahmed; Pavel Seeman; Béla Melegh; Milan Profant; Iwar Klimeš; Saima Riazuddin; Ľudevít Kádasi; Daniela Gašperíková
Journal: PLoS One Date: 2015-04-17 Impact factor: 3.240