title: [Hereditary hearing loss due to mutations in the connexin-26 gene].
abstract: Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hearing loss is characterised by enormous genetic heterogeneity, which makes diagnosis difficult. Approximately 50% of the Caucasian patients with autosomal recessive inherited hearing loss carry mutations in the connexin-26 gene on chromosome 13. Standard screening procedures such as SSCP (single strand conformation polymorphism) analysis, DHPLC (denaturing high performance liquid chromatography) and subsequent sequencing are used to investigate this gene. A genetic test is thus available which can be offered to probands in genetic counselling. We investigated 11 patients with hearing loss and found sequence aberrations in 7 patients, which is causative for the hearing loss in at least 5 patients. The first application of DHPLC in Switzerland is also documented.
authors.affiliation: Institut für Medizinische Genetik, Universität Zürich.
authors.forename: M
authors.initials: M
authors.lastname: Weigell-Weber
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: M
authors.initials: M
authors.lastname: Hergersberg
mesh_terms: D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D013557:Switzerland; D044465:White People
chemical_list: D017630:Connexins; D000072259:Connexin 26