title: Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
abstract: Hearing loss is a common sensory disorder, and at least 50% of cases are due to a genetic etiology. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss, GJB2, SLC26A4, and mtDNA12SrRNA are the major contributors. However, the mutation spectrum of these common deafness genes varies among different ethnic groups. The present work summarized mutations in these three genes and their prevalence in 339 patients with nonsyndromic hearing loss at three different special education schools and one children's hospital in Linyi, China. A new multiplex genetic screening system "SNPscan assay" was employed to detect a total of 115 mutations of the above three genes. Finally, 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. The carrying rate of mutations in the three genes was 37.76%, 19.75%, and 4.72%, respectively. This mutation profile in our study is distinct from other parts of China, with high mutation rate of GJB2 suggesting a unique mutation spectrum in this area.
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Fengguo
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Yun
authors.identifier: 0000-0002-3575-1539
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Guodong
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, People's Hospital of Linyi, Linyi, China.
authors.forename: Huaiqing
authors.initials: H
authors.lastname: Lv
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Bai
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Key Laboratory of Otology, Jinan 250022, China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26