title: Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
abstract: OBJECTIVE
  The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.
  
  
  METHODS
  We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome), 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.
  
  
  RESULTS
  The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.
  
  
  CONCLUSIONS
  Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening) for deafness-causing mutations in China.
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Wu
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Jiang
authors.affiliation: National Laboratory of Medical Genetics of China, School of Life Science, Central South University, Changsha, Hunan, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.affiliation: Province Key Laboratory of Otolaryngology Critical Diseases, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Chufeng
authors.initials: C
authors.lastname: He
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Chen
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Xueming
authors.initials: X
authors.lastname: Liu
authors.affiliation: ENT Department, Changsha First Hospital, Changsha, Hunan, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Hu
authors.affiliation: National Laboratory of Medical Genetics of China, School of Life Science, Central South University, Changsha, Hunan, China.
authors.forename: Yiqiao
authors.initials: Y
authors.lastname: Hu
authors.affiliation: ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Lingyun
authors.initials: L
authors.lastname: Mei
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D046228:Microarray Analysis; D009154:Mutation; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26