Literature DB >> 8541854

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

K Fukushima1, A Ramesh, C R Srisailapathy, L Ni, A Chen, M O'Neill, G Van Camp, P Coucke, S D Smith, J B Kenyon.   

Abstract

Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).

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Year:  1995        PMID： 8541854     DOI： 10.1093/hmg/4.9.1643

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  10 in total

1.  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

2.  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

Review 3.  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

Review 4.  The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Authors:  Denise Yan; Abhiraami Kannan-Sundhari; Subramanian Vishwanath; Jie Qing; Rahul Mittal; Mohan Kameswaran; Xue Zhong Liu
Journal:  Genet Test Mol Biomarkers       Date:  2015-07-17

5.  A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Authors:  D Yan; X Ke; S H Blanton; X M Ouyang; A Pandya; L L Du; W E Nance; X Z Liu
Journal:  J Med Genet       Date:  2005-06-15       Impact factor: 6.318

6.  An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Authors:  D A Scott; R Carmi; K Elbedour; S Yosefsberg; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

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

Authors:  D A Campbell; 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
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

8.  Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.

Authors:  Maria Carolina Braga Norte Esteves; Myriam de Lima Isaac; Anete Maria Francisco; Wilson Araújo da Silva Junior; Cristiane Ayres Ferreira; Ana Helena Banwart Dell'Aringa
Journal:  Eur Arch Otorhinolaryngol       Date:  2013-04-04       Impact factor: 2.503

9.  A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.

Authors:  Muhammad Ansar; Mohammad Amin ud Din; Muhammad Arshad; Muhammad Sohail; Mohammad Faiyaz-Ul-Haque; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
Journal:  Eur J Hum Genet       Date:  2003-01       Impact factor: 4.246

Review 10.  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
  10 in total

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