title: [Genetic analysis of family constellation for cochlear implant recipients].
abstract: GJB2, SLC26A4 (PDS) and mitochondrial DNA (mtDNA) have been associated with sensorineural hearing loss. In the present study, the clinical, genetic and molecular analysis of 14 cochlear implant recipients and their parents was studied from April 2006 to September 2007. Of the 14 subjects, 35.7% had gene mutations; 28.6% had homozygous GJB2 235delC mutation, whose parents carried heterozygous GJB2 235delC mutation; and 7.1% had mtDNA A1555G mutation, whose mother carried mtDNA A1555G mutation too. There was no SLC26A4 (PDS) mutation. These results strongly suggested that the mutation in GJB2 gene was a major cause of deafness in cochlear implant recipients and the mutation of mtDNA A1555G was another important cause. Genetic test of hot-spots and analysis of family constellation can offer an accurate genetic counseling to deaf family and reduce the incidence of hearing loss.
authors.affiliation: Department of Otorhinolsryngology, the Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical College, Wenzhou 325027, China. zhangchuqin0579@163.com
authors.forename: Chu-Qin
authors.initials: CQ
authors.lastname: Zhang
authors.forename: Bo-Bei
authors.initials: BB
authors.lastname: Chen
authors.forename: Jia-Yun
authors.initials: JY
authors.lastname: Huang
authors.forename: Dong-Mei
authors.initials: DM
authors.lastname: Sun
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Chen
authors.forename: Song-Jie
authors.initials: SJ
authors.lastname: Xiang
authors.forename: Min-Xin
authors.initials: MX
authors.lastname: Guan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003054:Cochlear Implants; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26