DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

A. M. Waryah, A. Rehman, Z. M. Ahmed, Z. H. Bashir, S. Y. Khan, A. U. Zafar, S. Riazuddin, T. B. Friedman, S. Riazuddin

Research output: Contribution to journalArticlepeer-review

Abstract

Waryah AM, Rehman A, Ahmed ZM, Bashir Z-H, Khan SY, Zafar AU, Riazuddin S, Friedman TB, Riazuddin S. DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15. Autosomal recessive nonsyndromic hearing impairment (ARNSHI) segregating in three unrelated, large consanguineous Pakistani families (PKDF528, PKDF859 and PKDF326) is linked to markers on chromosome 12q14.2-q15. This novel locus is designated DFNB74. Maximum two-point limit of detection (LOD) scores of 5.6, 5.7 and 2.6 were estimated for markers D12S313,D12S83 and D12S75 at θ = 0 for recessive deafness segregating in these three families. Haplotype analyses identified a critical linkage interval of 5.35 cM (5.36 Mb) defined by D12S329 at 74.58 cM and D12S313 at 79.93 cM. DFNB74 is the second ARNSHI locus mapped to chromosome 12, but the physical intervals do not overlap with one another. A locus contributing to the early onset, rapidly progressing hearing loss of A/J mice (ahl4, age-related hearing loss 4) was reported to map to chromosome 10 in a region of conserved synteny to DFNB74, suggesting that ahl4 and DFNB74 may be due to mutations of the same gene in these two species.

Original languageEnglish (US)
Pages (from-to)270-275
Number of pages6
JournalClinical Genetics
Volume76
Issue number3
DOIs
StatePublished - Sep 2009
Externally publishedYes

Keywords

  • Ahl4
  • Chromosome 12q14.2-q15
  • DFNB74
  • Deafness
  • Pakistan

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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