title: [Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss].
abstract: BACKGROUND
  Genetic characterization of hereditary hearing impairment has progressed considerably with the mapping of nine chromosomal loci for monosymptomatic autosomal-inherited hearing loss over the last three years.
  
  
  METHODS
  Following thorough clinical evaluation, linkage analysis using microsatellite markers was performed in two large families from Westphalia/West Germany.
  
  
  RESULTS
  For all the dominant (DFNA1--4) and three autosomal-recessive loci (DFNB1--3) described to date, linkage was finally excluded.
  
  
  CONCLUSIONS
  A high degree of genetic heterogeneity must be assumed. Identification of individual genes for monosymptomatic sensorineural hearing loss by linkage analysis in large pedigrees may help in molecular differentiation of hearing.
authors.affiliation: Poliklinik für Phoniatrie und Pädaudiologie, Westfälische Wilhelms-Universität Münster.
authors.forename: P
authors.initials: P
authors.lastname: Fiegert
authors.forename: A
authors.initials: A
authors.lastname: Lamprecht-Dinnesen
authors.forename: S
authors.initials: S
authors.lastname: Preisler-Adams
authors.forename: T
authors.initials: T
authors.lastname: Deufel
mesh_terms: D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D000072259:Connexin 26; D017630:Connexins; D004276:DNA, Satellite / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D017630:Connexins; D004276:DNA, Satellite; C000607042:GJB2 protein, human; D000072259:Connexin 26
vernacular_title: Molekulare Analysen der Heterogenität hereditärer monosymptomatischer Schallempfindungsschwerhörigkeiten.