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 N Menon, Dilip Deshmukh, Andrew J. Griffith, Sheikh Riazuddin, Thomas B. Friedman, Edward R. Wilcox

Research output: Contribution to journalArticle

105 Scopus citations

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 and 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.

Original languageEnglish (US)
Pages (from-to)527-531
Number of pages5
JournalHuman Genetics
Volume110
Issue number6
DOIs
StatePublished - Jun 2002
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ahmed, Z. M., Smith, T. N., Riazuddin, S., Makishima, T., Ghosh, M., Bokhari, S., Menon, P. S. N., Deshmukh, D., Griffith, A. J., Riazuddin, S., Friedman, T. B., & Wilcox, E. R. (2002). Nonsyndromic recessive deafness DFNB18 and usher syndrome type IC are allelic mutations of USHIC. Human Genetics, 110(6), 527-531. https://doi.org/10.1007/s00439-002-0732-4