title: GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
abstract: CONCLUSIONS
  This genetic epidemiological study demonstrated that 26.65% of the prelingual deafness in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language acquisition.
  
  
  OBJECTIVE
  The GJB2, SLC26A4 and mtDNA A1555G mutations are the prevalent causes of prelingual deafness worldwide. Numerous studies have revealed that the forms and frequencies of the mutations in the three genes are largely dependent on the ethnic or geographic origins. Hence, this study aimed to characterize the mutation profiles of the three genes in prelingual deafness in Northern Chinese patients. SUBECTS AND METHODS: An investigation of 514 patients with prelingual deafness and 117 controls with normal hearing was conducted. Bidirectional sequencing (or enzyme digestion) was applied to identify sequence variations.
  
  
  RESULTS
  This study revealed that 26.65% patients had two mutated alleles (homozygote or compound heterozygote) of GJB2 (9.14%) or SLC26A4 (8.95%) and/or an mtDNA A1555G (8.56%) mutation. In detail, 19.26% patients carried GJB2 mutations including 10.12% single mutant carriers. 235delC was the most common type, making up 69.18% of all mutants for GJB2. The mutant carrier rate for SLC26A4 was 15.2%, including 6.23% single mutant carriers. The two most common types (IVS7-2A > G and H723R) accounted for 51.61% and 33.06% mutations, respectively. Forty-five patients had mtDNA A1555G, giving a frequency of 8.75%. In the control group with normal hearing, 2.56%, 1.71% and 0% of the subjects carried a single mutant for GJB2, SLC26A4 and mtDNA A1555G, respectively.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou, China.
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Guo
authors.forename: Xiao-Wen
authors.initials: XW
authors.lastname: Liu
authors.forename: Jing
authors.initials: J
authors.lastname: Guan
authors.forename: Ming-Kun
authors.initials: MK
authors.lastname: Han
authors.forename: Da-Yong
authors.initials: DY
authors.lastname: Wang
authors.forename: Ya-Li
authors.initials: YL
authors.lastname: Zhao
authors.forename: Shao-Qi
authors.initials: SQ
authors.lastname: Rao
authors.forename: Qiu-Ju
authors.initials: QJ
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005828:Genetics, Population; D006720:Homozygote; D006801:Humans; D008297:Male; D012016:Reference Values; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26