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. 2006 May;69(5):429-33.
doi: 10.1111/j.1399-0004.2006.00611.x.

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

G Ali  1 , R L P Santos, P John, M A L Wambangco, K Lee, W Ahmad, Sm Leal
Affiliations

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

G Ali et al. Clin Genet. 2006 May.

Abstract

Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of prelingual inherited hearing impairment (HI). Here is described the mapping of a novel ARNSHI locus in a consanguineous Pakistani family with profound congenital HI. Two-point and multipoint linkage analyses were performed for the genome scan and fine mapping markers. Haplotypes were constructed to determine the region of homozygosity. At theta = 0, the maximum two-point LOD score of 4.0 was obtained at marker AAC040. A maximum multipoint LOD score of 5.3 was derived at marker D12S320, with the three-unit support interval demarcated by D12S89 and D12S1042. The region of homozygosity is flanked by markers D12S358 and D12S1042, which corresponds to 22.4 cM according to the Rutgers combined linkage-physical map of the human genome and spans 15.0 Mb on the sequence-based physical map. A novel ARNSHI locus DFNB62 was mapped to chromosome 12p13.2-p11.23. DFNB62 represents the second ARNSHI locus to map to chromosome 12.

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Figures

Fig. 1
Fig. 1
Pedigree of family 4134 with autosomal recessive non-syndromic hearing impairment due to DFNB62. Filled symbols represent hearing-impaired individuals. Clear symbols represent unaffected family members. For genotyped individuals, haplotypes are shown beneath each symbol, with the disease-associated haplotype in a box. The genotype for individual V-1 at marker AAC040 is unknown and has been designated ‘0 0’.
Fig. 2
Fig. 2
Audiogram of affected individual VI-6 demonstrating profound hearing impairment that involves all frequencies in both ears. Circles and crosses represent air conduction for right and left ear, respectively. Arrows indicate residual hearing at 2–8 kHz.
See this image and copyright information in PMC

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