Literature DB >> 14512973

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

Muhammad Wajid1, Amir Ali Abbasi, Muhammad Ansar, Thanh L Pham, Kai Yan, Sayedul Haque, Wasim Ahmad, Suzanne M Leal.   

Abstract

This article describes the identification of a novel locus (DFNB39) responsible for an autosomal recessive form of hearing loss segregating in a Pakistani consanguineous family. The hearing impaired members of this family present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 7q with a maximum multipoint lod score of 3.8. The region of homozygosity spans a 19 cM region that is bounded by markers D7S3046 and D7S644.

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Year:  2003        PMID： 14512973      PMCID： PMC2909101          DOI： 10.1038/sj.ejhg.5201041

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


  8 in total

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

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Review 6.  At the speed of sound: gene discovery in the auditory system.

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Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

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Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025
  8 in total
  5 in total

1.  Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Authors:  Ghazanfar Ali; Kwanghyuk Lee; Paula B Andrade; Sulman Basit; Regie Lyn P Santos-Cortez; Leon Chen; Musharraf Jelani; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal
Journal:  Hum Hered       Date:  2011-07-06       Impact factor: 0.444

2.  DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

Authors:  Muhammad Ansar; Maria H Chahrour; Mohammad Amin Ud Din; Muhammad Arshad; Sayedul Haque; Thanh L Pham; Kai Yan; Wasim Ahmad; Suzanne M Leal
Journal:  Hum Hered       Date:  2004       Impact factor: 0.444

3.  Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Authors:  Julie M Schultz; Shaheen N Khan; Zubair M Ahmed; Saima Riazuddin; Ali M Waryah; Dhananjay Chhatre; Matthew F Starost; Barbara Ploplis; Stephanie Buckley; David Velásquez; Madhulika Kabra; Kwanghyuk Lee; Muhammad J Hassan; Ghazanfar Ali; Muhammad Ansar; Manju Ghosh; Edward R Wilcox; Wasim Ahmad; Glenn Merlino; Suzanne M Leal; Sheikh Riazuddin; Thomas B Friedman; Robert J Morell
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

4.  Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Authors:  Robert J Morell; Rafal Olszewski; Risa Tona; Samuel Leitess; Talah T Wafa; Ian Taukulis; Julie M Schultz; Elizabeth J Thomason; Keri Richards; Brittany N Whitley; Connor Hill; Thomas Saunders; Matthew F Starost; Tracy Fitzgerald; Elizabeth Wilson; Takahiro Ohyama; Thomas B Friedman; Michael Hoa
Journal:  J Neurosci       Date:  2020-03-09       Impact factor: 6.167

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
  5 in total

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