title: [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].
abstract: BACKGROUND
  The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome.
  
  
  METHODS
  Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset.
  
  
  RESULTS
  The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%).
  
  
  CONCLUSIONS
  These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.
authors.affiliation: Servicio de ORL, Hospital Marqués de Valdecilla, Santander, Cantabria.
authors.forename: J
authors.initials: J
authors.lastname: Gallo-Terán
authors.forename: C
authors.initials: C
authors.lastname: Morales-Angulo
authors.forename: M
authors.initials: M
authors.lastname: Rodríguez-Ballesteros
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
authors.forename: F
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020459:Genes, rRNA; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000453:epidemiology / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D008565:Membrane Proteins; C118457:OTOF protein, human; D000072259:Connexin 26