Human Genetics

, Volume 110, Issue 6, pp 527–531

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

  • Zubair M. Ahmed
  • Tenesha N. Smith
  • Saima Riazuddin
  • Tomoko Makishima
  • Manju Ghosh
  • Sirosh Bokhari
  • Puthezhath S. Menon
  • Dilip Deshmukh
  • Andrew J. Griffith
  • Sheikh Riazuddin
  • Thomas B. Friedman
  • Edward R. Wilcox
Original Investigation

DOI: 10.1007/s00439-002-0732-4

Cite this article as:
Ahmed, Z.M., Smith, T.N., Riazuddin, S. et al. Hum Genet (2002) 110: 527. doi:10.1007/s00439-002-0732-4

Abstract.

Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G→C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness (DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G→C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G→C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Zubair M. Ahmed
    • 1
  • Tenesha N. Smith
    • 1
  • Saima Riazuddin
    • 1
  • Tomoko Makishima
    • 3
  • Manju Ghosh
    • 4
  • Sirosh Bokhari
    • 2
  • Puthezhath S. Menon
    • 4
  • Dilip Deshmukh
    • 5
  • Andrew J. Griffith
    • 3
  • Sheikh Riazuddin
    • 2
  • Thomas B. Friedman
    • 1
  • Edward R. Wilcox
    • 1
  1. 1.Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, 2A-19, Rockville, MD 20850USA
  2. 2.National Center of Excellence in Molecular Biology, Punjab University, Lahore, PakistanPakistan
  3. 3.Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850USA
  4. 4.Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New DelhiIndia
  5. 5.Deshmukh Nursing Home, Sangram Chouk, Ichalkaranji, Maharashtra StateIndia
  6. 6.Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850USA