title: A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
abstract: Hearing loss (HL) is a common genetically heterogeneous sensory disorder, occurring in 1 to 3 per 1000 live births. In spite of the extraordinary genetic heterogeneity, variants in GJB2, MT-RNR1, and SLC26A4 genes have been considered as the main reasons of nonsyndromic hearing loss in Chinese population. We developed a rapid multiplex genetic screening system called the SNPscan assay technique which could detect the 115 mutations of the above three genes. This technique is a high-throughput and cost-saving SNP genotyping method. We found that the carrier rate of mutations in the GJB2 gene, MT-RNR1 gene, and SLC26A4 gene was 26.21%, 1.86%, and 25.46% of the patients with nonsyndromic hearing loss, respectively. Using this method, up to 50% of the patients in our study were identified to have hereditary HL caused by mutations in the three genes. It is applicable to not only genetic diagnosis of HL, but also molecular screening of other inherited diseases.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou, Gansu, People's Republic of China; Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
authors.forename: Wan
authors.initials: W
authors.lastname: Du
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Urology, the Second Hospital of Lanzhou University, Lanzhou, Gansu, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Ding
authors.affiliation: Center for Human Genetics Research, Genesky Biotechnologies Inc., Shanghai, People's Republic of China.
authors.forename: Zhengwen
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou, Gansu, People's Republic of China.
authors.forename: Yufen
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Yuan
mesh_terms: D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: GJB2; Gene mutation; MT-RNR1; Nonsyndromic hearing loss; SLC26A4