Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q

Kunihiro Fukushima, Arabandi Ramesh, C. R.Srikumari Srisailapathy, Li Ni, Achih Chen, Marsha O'neill, Guy Van Camp, Paul Coucke, Shelley D.smith, Judith B.kenyon, Pawain Jain, Ed R. Wilcox, Ross I.s.zbar, Richard J.h.smith

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Abstract

Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).

Original languageEnglish (US)
Pages (from-to)1643-1648
Number of pages6
JournalHuman Molecular Genetics
Volume4
Issue number9
DOIs
Publication statusPublished - Sep 1 1995

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Fukushima, K., Ramesh, A., Srisailapathy, C. R. S., Ni, L., Chen, A., O'neill, M., ... J.h.smith, R. (1995). Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Human Molecular Genetics, 4(9), 1643-1648. https://doi.org/10.1093/hmg/4.9.1643