title: [Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
abstract: BACKGROUND
  Sensorineural deafness is a very common disorder in humans, which affects approximately 10% of the population. Genetic causes are suggested to be responsible for more than half of the cases. The A1555G mutation in the mitochondrial 12S rRNA gene and the 35delG mutation in the GJB2 gene are the most common mutations for sensorineural deafness in the Spanish population.
  
  
  METHODS
  A genetic study was carried out in order to determine the frequency of the mutations A1555G in the mitochondrial DNA and 35delG in the connexin-26 gene in 21 patients from 21 non-consanguineous unrelated families affected by late-onset bilateral non-syndromic sensorineural hearing loss from Cantabria.
  
  
  RESULTS
  The A1555G mutation was found in 6 patients. Five of these 6 patients had been treated with aminoglycosides. In all of them the auditory impairment affected mainly the high frequencies. The 35delG mutation was not found in any of the patients.
  
  
  CONCLUSIONS
  The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.
authors.affiliation: Servicio de Otorrinolaringología, Hospital Sierrallana, Torrelavega, Cantabria.
authors.forename: J
authors.initials: J
authors.lastname: Gallo-Terán
authors.forename: C
authors.initials: C
authors.lastname: Morales-Angulo
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
authors.forename: M
authors.initials: M
authors.lastname: Villamar
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: J
authors.initials: J
authors.lastname: García-Mantilla
authors.forename: F
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002391:Catchment Area, Health; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26