Literature DB >> 9507396

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

N J Lench1, A F Markham, R F Mueller, D P Kelsell, R J Smith, P J Willems, I Schatteman, H Capon, P J Van De Heyning, G Van Camp.   

Abstract

We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations.

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Year:  1998        PMID: 9507396      PMCID: PMC1051221          DOI: 10.1136/jmg.35.2.151

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


  4 in total

1.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

Review 2.  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 3.  The gap junction communication channel.

Authors:  N M Kumar; N B Gilula
Journal:  Cell       Date:  1996-02-09       Impact factor: 41.582

4.  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

  4 in total
  4 in total

1.  Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Authors:  S Abe; S Usami; H Shinkawa; P M Kelley; W J Kimberling
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Authors:  L Van Laer; P Coucke; R F Mueller; G Caethoven; K Flothmann; S D Prasad; G P Chamberlin; M Houseman; G R Taylor; C M Van de Heyning; E Fransen; J Rowland; R A Cucci; R J Smith; G Van Camp
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

3.  GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Authors:  Akihiro Ohtsuka; Isamu Yuge; Shinobu Kimura; Atsushi Namba; Satoko Abe; Lut Van Laer; Guy Van Camp; Shin-ichi Usami
Journal:  Hum Genet       Date:  2003-01-31       Impact factor: 4.132

4.  Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Authors:  Irina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu
Journal:  Genes (Basel)       Date:  2020-12-15       Impact factor: 4.096

  4 in total

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