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.
Copyright © 2011 S. Karger AG, Basel.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Actins / genetics
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Calcium-Binding Proteins / genetics
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Cell Cycle Proteins / genetics
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Chromosome Mapping
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Chromosomes, Human, Pair 7 / genetics*
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Consanguinity
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DNA-Binding Proteins / genetics
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Female
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Genes, Recessive*
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Genetic Loci / genetics*
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Genetic Predisposition to Disease / genetics
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Genotype
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Glycoproteins / genetics
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Haplotypes
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Hearing Loss / genetics*
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Hearing Loss / pathology
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Humans
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Male
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Neuropeptides / genetics
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Pedigree
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Polymorphism, Single Nucleotide
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Promoter Regions, Genetic / genetics
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Ribose-Phosphate Pyrophosphokinase / genetics
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Sequence Analysis, DNA
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Trans-Activators
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Transcription Factors / genetics
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rac1 GTP-Binding Protein / genetics
Substances
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Actins
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BZW1 protein, human
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Calcium-Binding Proteins
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Cell Cycle Proteins
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DNA-Binding Proteins
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Glycoproteins
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MACC1 protein, human
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Neuropeptides
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RAC1 protein, human
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RPA3 protein, human
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Trans-Activators
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Transcription Factors
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neurexophilin
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oncomodulin
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PRPS1 protein, human
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Ribose-Phosphate Pyrophosphokinase
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rac1 GTP-Binding Protein