International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 137

Full Length Research Paper

A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation

G. Padma1, P. V. Ramchander2, U. V. Nandur3 and T. Padma1*
  1Department of Genetics, Osmania University, Tarnaka, Hyderabad-500007, India. 2Institute of Life Sciences, Nalco Square, Bhubaneswar-751023, Orissa, India. 3Government Ear, Nose and Throat Hospital, Koti, Hyderabad-500195, India.
Email: [email protected]

  •  Accepted: 17 June 2010
  •  Published: 30 June 2010

Abstract

 

In the present study, the authors reported a family of a male proband with prelingual, profound non-syndromic hearing impairment homozygous for p.W24X mutation in GJB2gene, arising as a result of maternal uniparental disomy of a part of chromosome 13q.

 

Key words: Hearing impairment, p.W24X mutation, uniparental disomy.

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This article is published under the terms of the Creative Commons Attribution License 4.0

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