Literature DB >> 8136828

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

P Guilford1, S Ben Arab, S Blanchard, J Levilliers, J Weissenbach, A Belkahia, C Petit.   

Abstract

Non-syndromic, recessively inherited deafness is the most predominant form of severe inherited childhood deafness. Until now, no gene responsible for this type of deafness has been localized, due to extreme genetic heterogeneity and limited clinical differentiation. Linkage analyses using highly polymorphic microsatellite markers were performed on two consanguineous families from Tunisia affected by this form of deafness. The deafness was profound, fully penetrant and prelingual. A maximum two-point lod score of 9.88 (theta = 0.001) was found with a marker detecting a 13q locus (D13S175). Linkage was also observed to the pericentromeric 13q12 loci D13S115 and D13S143. These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy.

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Year:  1994        PMID: 8136828     DOI: 10.1038/ng0194-24

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  44 in total

1.  Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.

Authors:  Yan Qu; Wenxue Tang; Binfei Zhou; Shoeb Ahmad; Qing Chang; Xiaoming Li; Xi Lin
Journal:  Biochem Biophys Res Commun       Date:  2011-11-28       Impact factor: 3.575

2.  Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.

Authors:  Shoeb Ahmad; Wenxue Tang; Qing Chang; Yan Qu; Jill Hibshman; Yuhua Li; Goran Söhl; Klaus Willecke; Ping Chen; Xi Lin
Journal:  Proc Natl Acad Sci U S A       Date:  2007-01-16       Impact factor: 11.205

3.  Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Authors:  B Bonné-Tamir; A L DeStefano; C E Briggs; R Adair; B Franklyn; S Weiss; M Korostishevsky; M Frydman; C T Baldwin; L A Farrer
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Authors:  E Gausden; B Coyle; J A Armour; R Coffey; A Grossman; G R Fraser; R M Winter; M E Pembrey; P Kendall-Taylor; D Stephens; L M Luxon; P D Phelps; W Reardon; R Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

5.  Direct isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprinting.

Authors:  I H Still; P Vince; J K Cowell
Journal:  Proc Natl Acad Sci U S A       Date:  1997-09-16       Impact factor: 11.205

Review 6.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

7.  Profile of Christine Petit.

Authors:  Tinsley H Davis
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-24       Impact factor: 11.205

Review 8.  Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:  Tahir Atik; Guney Bademci; Oscar Diaz-Horta; Susan H Blanton; Mustafa Tekin
Journal:  Genet Res (Camb)       Date:  2015-03-31       Impact factor: 1.588

9.  [Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].

Authors:  T Tóth; S Kupka; I Sziklai; N Blin; H-P Zenner; M Pfister
Journal:  HNO       Date:  2003-03-27       Impact factor: 1.284

10.  Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Authors:  S Winata; I N Arhya; S Moeljopawiro; J T Hinnant; Y Liang; T B Friedman; J H Asher
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

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