Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

John H. Greinwald, Sigrid Wayne, Hung Chih Chen, Daryl A. Scott, Ross I.S. Zbar, Michelle L. Kraft, Sai Prasad, Arabandi Ramesh, Paul Coucke, C. R.Srikumari Srisailapathy, Michael Lovett, Guy Van Camp, Richard J.H. Smith

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was mapped to a 5-cM interval of 7q31 in a large Middle-Eastern Druze family. This interval also includes the gene for Pendred syndrome. We report on three new families with Hill from the Madras region of southern India that demonstrate linkage to 7q. Their pedigrees are compatible with autosomal recessive inheritance. Furthermore, the largest family identifies a novel locus (DFNB17) telomeric to the DFNB4 and Pendred intervals. A 3-cM region of homozygosity by descent between markers D7S486 and D7S2529 is present in all affected individuals in this family and generates a multipoint LOD score of 4.24. The two other families map to the previously reported DFNB4 region but have insufficient power to attain significant LOD scores. However, mutations in the Pendred syndrome gene are present in one of these families.

Original languageEnglish (US)
Pages (from-to)107-113
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume78
Issue number2
DOIs
StatePublished - Jun 30 1998

Keywords

  • Chromosome 7q31
  • DFNB17
  • Deafness
  • Linkage
  • Nonsyndromic

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31'. Together they form a unique fingerprint.

  • Cite this

    Greinwald, J. H., Wayne, S., Chen, H. C., Scott, D. A., Zbar, R. I. S., Kraft, M. L., Prasad, S., Ramesh, A., Coucke, P., Srisailapathy, C. R. S., Lovett, M., Van Camp, G., & Smith, R. J. H. (1998). Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. American Journal of Medical Genetics, 78(2), 107-113. https://doi.org/10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L