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

  • Atteeq U. Rehman
  • Khitab Gul
  • Robert J. Morell
  • Kwanghyuk Lee
  • Zubair M. Ahmed
  • Saima Riazuddin
  • Rana A. Ali
  • Mohsin Shahzad
  • Ateeq-ul Jaleel
  • Paula B. Andrade
  • Shaheen N. Khan
  • Saadullah Khan
  • Carmen C. Brewer
  • Wasim Ahmad
  • Suzanne M. Leal
  • Sheikh Riazuddin
  • Thomas B. Friedman
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

Authors and Affiliations

  • Atteeq U. Rehman
    • 1
  • Khitab Gul
    • 2
  • Robert J. Morell
    • 1
  • Kwanghyuk Lee
    • 3
  • Zubair M. Ahmed
    • 4
    • 5
  • Saima Riazuddin
    • 4
    • 5
  • Rana A. Ali
    • 2
  • Mohsin Shahzad
    • 2
  • Ateeq-ul Jaleel
    • 2
  • Paula B. Andrade
    • 3
  • Shaheen N. Khan
    • 2
  • Saadullah Khan
    • 6
  • Carmen C. Brewer
    • 7
  • Wasim Ahmad
    • 6
  • Suzanne M. Leal
    • 3
  • Sheikh Riazuddin
    • 8
  • Thomas B. Friedman
    • 1
  1. 1.Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication DisordersNational Institutes of HealthRockvilleUSA
  2. 2.National Centre of Excellence in Molecular BiologyPunjab UniversityLahorePakistan
  3. 3.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  4. 4.Division of Pediatric OphthalmologyCincinnati Children’s Hospital Research FoundationCincinnatiUSA
  5. 5.Division of Otolaryngology, Head and Neck SurgeryCincinnati Children’s Hospital Research FoundationCincinnatiUSA
  6. 6.Department of Biochemistry, Faculty of Biological SciencesQuaid-I-Azam UniversityIslamabadPakistan
  7. 7.Otolaryngology Branch, National Institute on Deafness and Other Communication DisordersNational Institutes of HealthBethesdaUSA
  8. 8.Allama Iqbal Medical College/Jinnah Hospital ComplexUniversity of Health SciencesLahorePakistan