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. 2006 Aug;120(1):85-92.
doi: 10.1007/s00439-006-0188-z. Epub 2006 May 16.

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

Regie Lyn P Santos  1 , Muhammad Jawad Hassan, Shaheen Sikandar, Kwanghyuk Lee, Ghazanfar Ali, Protacio E Martin Jr, Michael Angelo L Wambangco, Wasim Ahmad, Suzanne M Leal
Affiliations

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

Regie Lyn P Santos et al. Hum Genet. 2006 Aug.

Abstract

From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two families was bounded by D19S586 and D19S584, which limits the locus interval to 1.9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants.

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Figures

Fig. 1
Fig. 1
Drawing of pedigrees 4100 (a) and 4154 (b). Filled symbols represent individuals with hearing impairment, while clear symbols are for unaffected family members. Haplotypes are shown beneath each genotyped individual with maternal haplotypes on the left-hand side and paternal haplotypes on the right. The boxed area indicates the region of homozygosity for each individual. Shaded genotypes are for markers that completely segregate with the hearing impairment status. Genotypes marked as “O O” are unknown for the individual
Fig. 1
Fig. 1
Drawing of pedigrees 4100 (a) and 4154 (b). Filled symbols represent individuals with hearing impairment, while clear symbols are for unaffected family members. Haplotypes are shown beneath each genotyped individual with maternal haplotypes on the left-hand side and paternal haplotypes on the right. The boxed area indicates the region of homozygosity for each individual. Shaded genotypes are for markers that completely segregate with the hearing impairment status. Genotypes marked as “O O” are unknown for the individual
Fig. 2
Fig. 2
Schematic representation of the three-unit support interval (3-u SI) and region of homozygosity (ROH) for the DFNB68 locus for families 4100 and 4154. Markers are scaled according to the genetic map position in the Rutgers map. The DFNB15 interval at chromosome 19 is also shown for comparison. Candidate genes that are found in inner ear expression databases are listed. The region of overlap between the ROH of the two families that completely segregate with hearing impairment (thick line on 4100 ROH) is flanked by D19S586 and D19S584, and includes the genes DNMT1, ICAM1, KEAP1, CDKN2D, CTL2, and SMARCA4
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