Human Genetics

, Volume 130, Issue 6, pp 759–765

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Authors

  • Atteeq U. Rehman
    • Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication DisordersNational Institutes of Health
  • Khitab Gul
    • National Centre of Excellence in Molecular BiologyPunjab University
  • Robert J. Morell
    • Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication DisordersNational Institutes of Health
  • Kwanghyuk Lee
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Zubair M. Ahmed
    • Division of Pediatric OphthalmologyCincinnati Children’s Hospital Research Foundation
    • Division of Otolaryngology, Head and Neck SurgeryCincinnati Children’s Hospital Research Foundation
  • Saima Riazuddin
    • Division of Pediatric OphthalmologyCincinnati Children’s Hospital Research Foundation
    • Division of Otolaryngology, Head and Neck SurgeryCincinnati Children’s Hospital Research Foundation
  • Rana A. Ali
    • National Centre of Excellence in Molecular BiologyPunjab University
  • Mohsin Shahzad
    • National Centre of Excellence in Molecular BiologyPunjab University
  • Ateeq-ul Jaleel
    • National Centre of Excellence in Molecular BiologyPunjab University
  • Paula B. Andrade
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Shaheen N. Khan
    • National Centre of Excellence in Molecular BiologyPunjab University
  • Saadullah Khan
    • Department of Biochemistry, Faculty of Biological SciencesQuaid-I-Azam University
  • Carmen C. Brewer
    • Otolaryngology Branch, National Institute on Deafness and Other Communication DisordersNational Institutes of Health
  • Wasim Ahmad
    • Department of Biochemistry, Faculty of Biological SciencesQuaid-I-Azam University
  • Suzanne M. Leal
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Sheikh Riazuddin
    • Allama Iqbal Medical College/Jinnah Hospital ComplexUniversity of Health Sciences
    • Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication DisordersNational Institutes of Health
Original Investigation

DOI: 10.1007/s00439-011-1018-5

Cite this article as:
Rehman, A.U., Gul, K., Morell, R.J. et al. Hum Genet (2011) 130: 759. doi:10.1007/s00439-011-1018-5

Abstract

A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81.

Copyright information

© Springer-Verlag (outside the USA) 2011