title: Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.
abstract: CONCLUSIONS
  There could be another candidate gene in DFNA2, which could be responsible for the hearing loss phenotype.
  
  
  OBJECTIVE
  We collected a four-generation family from the southern part of China with autosomal dominant sensorineural hearing impairment. In order to identify the responsible pathogenic mutations in this family, we set out to identify the locus and to sequentially analyze the candidate genes in the identified region.
  
  
  METHODS
  After family ascertainment and clinical analysis, exclusive analysis was performed. Then a genome-wide scan was performed using an Illumina Linkage-12 DNA Analysis Kit (average spacing 0.58 cM). Fine-mapping markers were genotyped to identify the locus. Finally, we performed haplotype analyses and candidate gene DNA sequencing for the family.
  
  
  RESULTS
  The known genetic loci and genes were not associated with our family. The genome-wide scan and haplotype analyses traced the disease to chromosome 1p34.2-p34.3 with maximum multi-point LOD score of 3.2, which overlaps with DFNA2. We failed to identify any of the known or novel variants within KCNQ4, a voltage-gated potassium channel gene, and GJB3, a gene that encodes the gap junction protein connexin 31, which were the cloned deafness genes in DFNA2.
authors.affiliation: Department of Otolaryngology, Xiangya Hospital, Central South University, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Jiang
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Lingyun
authors.initials: L
authors.lastname: Mei
authors.forename: Liwei
authors.initials: L
authors.lastname: Long
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Chen
authors.forename: Jingjie
authors.initials: J
authors.lastname: Xue
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Chufeng
authors.initials: C
authors.lastname: He
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D002681:China; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D060005:Genotyping Techniques; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide