Literature DB >> 9429146

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

D A Campbell1, D P McHale, K A Brown, L M Moynihan, M Houseman, G Karbani, G Parry, A H Janjua, V Newton, L al-Gazali, A F Markham, N J Lench, R F Mueller.   

Abstract

Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.

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Year:  1997        PMID： 9429146      PMCID： PMC1051155          DOI： 10.1136/jmg.34.12.1015

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

1.  An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Authors:  K Fukushima; A Ramesh; C R Srisailapathy; L Ni; S Wayne; M E O'Neill; G Van Camp; P Coucke; P Jain; E R Wilcox; S D Smith; J B Kenyon; R I Zbar; R J Smith
Journal:  Genome Res       Date:  1995-10       Impact factor: 9.043

2.  Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

Authors:  K Fukushima; A Ramesh; C R Srisailapathy; L Ni; A Chen; M O'Neill; G Van Camp; P Coucke; S D Smith; J B Kenyon
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

3.  Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

Authors:  L Kruglyak; M J Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

4.  A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

Authors:  T B Friedman; Y Liang; J L Weber; J T Hinnant; T D Barber; S Winata; I N Arhya; J H Asher
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330

5.  Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Authors:  D Weil; S Blanchard; J Kaplan; P Guilford; F Gibson; J Walsh; P Mburu; A Varela; J Levilliers; M D Weston
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

6.  Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Authors:  C T Baldwin; S Weiss; L A Farrer; A L De Stefano; R Adair; B Franklyn; K K Kidd; M Korostishevsky; B Bonné-Tamir
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

7.  The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.

Authors:  M A Maw; D R Allen-Powell; R J Goodey; I A Stewart; D J Nancarrow; N K Hayward; R J Gardner
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

8.  A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus.

Authors:  P K Jain; K Fukushima; D Deshmukh; A Ramesh; E Thomas; A K Lalwani; S Kumar; B Plopis; H Skarka; C R Srisailapathy
Journal:  Hum Mol Genet       Date:  1995-12       Impact factor: 6.150

9.  A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Authors:  P Guilford; H Ayadi; S Blanchard; H Chaib; D Le Paslier; J Weissenbach; M Drira; C Petit
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

10.  A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

Authors:  P Guilford; S Ben Arab; S Blanchard; J Levilliers; J Weissenbach; A Belkahia; C Petit
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330
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  7 in total

1.  Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Authors:  Lauren J Francey; Laura K Conlin; Hanna E Kadesch; Dinah Clark; Donna Berrodin; Yi Sun; Joe Glessner; Hakon Hakonarson; Chaim Jalas; Chaim Landau; Nancy B Spinner; Margaret Kenna; Michal Sagi; Heidi L Rehm; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2011-12-06       Impact factor: 2.802

2.  DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Authors:  Jamil Ahmad; Shaheen N Khan; Shahid Y Khan; Khushnooda Ramzan; Saima Riazuddin; Zubair M Ahmed; Edward R Wilcox; Thomas B Friedman; Sheikh Riazuddin
Journal:  Hum Genet       Date:  2005-02-12       Impact factor: 4.132

3.  Impaired motor coordination in mice that lack punc.

Authors:  W Yang; C Li; S L Mansour
Journal:  Mol Cell Biol       Date:  2001-09       Impact factor: 4.272

4.  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

5.  Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

Authors:  Paul Avan; Sébastien Le Gal; Vincent Michel; Typhaine Dupont; Jean-Pierre Hardelin; Christine Petit; Elisabeth Verpy
Journal:  Proc Natl Acad Sci U S A       Date:  2019-11-27       Impact factor: 11.205

Review 6.  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

7.  Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.

Authors:  Shin-Ya Nishio; Shin-Ichi Usami
Journal:  Sci Rep       Date:  2022-01-12       Impact factor: 4.379
  7 in total

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