1. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3
- Author
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Musharraf Jelani, Paula B. Andrade, Muhammad Ansar, Ghazanfar Ali, Kwanghyuk Lee, Wasim Ahmad, Sulman Basit, Leon Chen, Suzanne M. Leal, and Regie Lyn P. Santos-Cortez
- Subjects
Male ,rac1 GTP-Binding Protein ,Paper ,Candidate gene ,Genotype ,Genome Scan ,Locus (genetics) ,Cell Cycle Proteins ,Genes, Recessive ,Consanguinity ,Biology ,Polymorphism, Single Nucleotide ,Genetics ,otorhinolaryngologic diseases ,Ribose-Phosphate Pyrophosphokinase ,SNP ,Humans ,Genetic Predisposition to Disease ,Hearing Loss ,Promoter Regions, Genetic ,Gene ,Genetics (clinical) ,Glycoproteins ,Chromosome 7 (human) ,Haplotype ,Calcium-Binding Proteins ,Neuropeptides ,Chromosome Mapping ,Sequence Analysis, DNA ,Actins ,Pedigree ,DNA-Binding Proteins ,Haplotypes ,Genetic Loci ,Trans-Activators ,Female ,Chromosomes, Human, Pair 7 ,Transcription Factors - Abstract
A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
- Published
- 2011