Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3

Shahid Y. Khan, Saima Riazuddin, Muhammad Tariq, Saima Anwar, Muhammad I. Shabbir, S. Amer Riazuddin, Shaheen N. Khan, Tayyab Husnain, Zubair M. Ahmed, Thomas B. Friedman, Sheikh Riazuddin

Research output: Contribution to journalArticlepeer-review

Abstract

A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at θ = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families deWne a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.

Original languageEnglish (US)
Pages (from-to)789-793
Number of pages5
JournalHuman genetics
Volume120
Issue number6
DOIs
StatePublished - Jan 2007
Externally publishedYes

Keywords

  • 11q13.2-q13.3
  • DFNB63
  • Deafness
  • Pakistan

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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