title: Connexin26 mutations associated with nonsyndromic hearing loss.
abstract: OBJECTIVE
  Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The 35delG mutation is the most frequent type of mutation in white populations. However, several other forms were reported, such as 167delT among Ashkenazi Jews and R143W in Africans. The present study investigated the mutations of connexin26 (Cx26) found in patients with nonsyndromic hearing loss (NSHL) and newborns in the Korean population.
  
  
  METHODS
  The sequencing data for 147 unrelated patients with congenital NSHL and 100 audiologically screened newborns were included in this prospective study.
  
  
  METHODS
  Genomic DNA samples from all patients and newborns were sequenced in both directions for detection of Cx26 mutations.
  
  
  RESULTS
  Thirteen different types of mutations were found in the patients and newborns. V27I and E114G are the popular types of polymorphic mutations in both groups. 235delC-deletion and frameshift--was detected in patients (15 in 294 alleles) and newborns (1 in 200 alleles). 35delG was rarely found in both group. In addition to above mutations, several types of mutations--S85P, K41R, S72C, V84A, 176-191del, and 299-300del-were identified. The family study of the 235delC showed a typical autosomal recessive trait of NSHL in their audiological evaluation of hearing threshold.
  
  
  CONCLUSIONS
  The frequency of 235delC allele showed much higher in the patients (5%) than in newborns (0.5%). We rarely found 35delC mutant in both groups. These results suggest that the different types of Cx26 mutations affect autosomal recessive NSHL according to ethnic background.
authors.affiliation: Department of Otolaryngology, Ajou University School of Medicine, Suwon, Korea. hjpark@madang.ajou.ac.kr
authors.forename: H J
authors.initials: HJ
authors.lastname: Park
authors.forename: S H
authors.initials: SH
authors.lastname: Hahn
authors.forename: Y M
authors.initials: YM
authors.lastname: Chun
authors.forename: K
authors.initials: K
authors.lastname: Park
authors.forename: H N
authors.initials: HN
authors.lastname: Kim
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001301:Audiometry, Pure-Tone / Q000379:methods; D001309:Auditory Threshold; D003062:Codon; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D006311:Hearing Disorders / Q000151:congenital / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007723:Korea / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011446:Prospective Studies
chemical_list: D003062:Codon; D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26