Mapping and Cloning Hereditary Hearing Impairment Genes

Friedman, Thomas Baer

Abstract

Hearing loss loci segregating in consanguineous families from India and Pakistan were ascertained. Each family consisted of at least four affected children related to each other through a consanguineous union. Some of these families mapped to known loci such as DFNB3, DFNB4, DFNB6, DFNB8/DFNB10 and DFNB12. Others represent mutations in new DFNB genes that are being mapped such as DFNB18. A large number of additional consanguineous Indian families with nonsyndromic hereditary hearing impairment have recently been ascertained which support LOD scores over 3. DNA samples from these families are being analyzed for localization to known loci. Any families unlinked to the known DFNB and DFNA loci will then be mapped to find additional locations for recessive loci causing nonsyndromic hereditary hearing impairment. - recessive deafness, genetic mapping, cloning, unconventional myosins, MYO15, DFNA and DFNB loci - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute on Deafness and Other Communication Disorders (NIDCD)
• Type: Intramural Research (Z01)
• Project #: 1Z01DC000035-03
• Application #: 6289641
• Study Section: Special Emphasis Panel (LMG)
• Support Year: 3
• Fiscal Year: 1999

Institution

• Name: National Institute on Deafness and Other Communication Disorders
• Country: United States

Publications

Collin, Rob W J; Kalay, Ersan; Tariq, Muhammad et al. (2008) Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet 82:125-38

Liburd, N; Ghosh, M; Riazuddin, S et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109:535-41

Ahmed, Z M; Riazuddin, S; Bernstein, S L et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69:25-34

Ben-Yosef, T; Wattenhofer, M; Riazuddin, S et al. (2001) Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 38:396-400

Riazuddin, S; Castelein, C M; Ahmed, Z M et al. (2000) Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet 26:431-4

Friedman, T B; Hinnant, J T; Fridell, R A et al. (2000) DFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15. Adv Otorhinolaryngol 56:131-44

McGuirt, W T; Lesperance, M M; Wilcox, E R et al. (2000) Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13. Adv Otorhinolaryngol 56:84-96

Yasunaga, S; Grati, M; Chardenoux, S et al. (2000) OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 67:591-600

Friedman, T; Battey, J; Kachar, B et al. (2000) Modifier genes of hereditary hearing loss. Curr Opin Neurobiol 10:487-93

Wilcox, E R; Everett, L A; Li, X C et al. (2000) The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. Adv Otorhinolaryngol 56:145-51