title: Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
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.
authors: Department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.
authors: Ghazanfar
authors: G
authors: Ali
authors: Kwanghyuk
authors: K
authors: Lee
authors: Paula B
authors: PB
authors: Andrade
authors: Sulman
authors: S
authors: Basit
authors: Regie Lyn P
authors: RL
authors: Santos-Cortez
authors: Leon
authors: L
authors: Chen
authors: Musharraf
authors: M
authors: Jelani
authors: Muhammad
authors: M
authors: Ansar
authors: Wasim
authors: W
authors: Ahmad
authors: Suzanne M
authors: SM
authors: Leal
mesh_terms: D000199:Actins / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics; D006239:Haplotypes; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics; D017422:Sequence Analysis, DNA; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics; D020830:rac1 GTP-Binding Protein / Q000235:genetics
chemical_list: D000199:Actins; C435403:BZW1 protein, human; D002135:Calcium-Binding Proteins; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D006023:Glycoproteins; C544162:MACC1 protein, human; D009479:Neuropeptides; C107953:RAC1 protein, human; C534779:RPA3 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; C112162:neurexophilin; C034733:oncomodulin; C510474:PRPS1 protein, human; D012268:Ribose-Phosphate Pyrophosphokinase; D020830:rac1 GTP-Binding Protein