Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3

Hum Hered. 2011;71(2):106-12. doi: 10.1159/000320154. Epub 2011 Jul 6.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / genetics
  • Calcium-Binding Proteins / genetics
  • Cell Cycle Proteins / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7 / genetics*
  • Consanguinity
  • DNA-Binding Proteins / genetics
  • Female
  • Genes, Recessive*
  • Genetic Loci / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Glycoproteins / genetics
  • Haplotypes
  • Hearing Loss / genetics*
  • Hearing Loss / pathology
  • Humans
  • Male
  • Neuropeptides / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics
  • Ribose-Phosphate Pyrophosphokinase / genetics
  • Sequence Analysis, DNA
  • Transcription Factors / genetics
  • rac1 GTP-Binding Protein / genetics

Substances

  • Actins
  • BZW1 protein, human
  • Calcium-Binding Proteins
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Glycoproteins
  • MACC1 protein, human
  • Neuropeptides
  • RAC1 protein, human
  • RPA3 protein, human
  • Transcription Factors
  • neurexophilin
  • oncomodulin
  • PRPS1 protein, human
  • Ribose-Phosphate Pyrophosphokinase
  • rac1 GTP-Binding Protein