BACKGROUND: Hereditary hearing impairment constitutes a heterogeneous class of disorders showing different patterns of inheritance and involving multiple genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic nonsyndromic hearing impairment in different populations. METHODS: We analyzed 14 northeast Hungarian families and 69 sporadic cases with nonsyndromic hearing impairment for the 35delG mutation. Sixty-five patients showing a homozygous 35delG mutation were examined regarding their audiologic phenotype. RESULTS: In general, these patients (70%) showed a prelingual, sensorineural, bilateral, symmetric hearing impairment without progression. The audiograms demonstrated sloping as well as flat patterns. CONCLUSIONS: The severity of hearing impairment varied in 30% of all analyzed patients, making genetic counseling difficult.
BACKGROUND: Hereditary hearing impairment constitutes a heterogeneous class of disorders showing different patterns of inheritance and involving multiple genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic nonsyndromic hearing impairment in different populations. METHODS: We analyzed 14 northeast Hungarian families and 69 sporadic cases with nonsyndromic hearing impairment for the 35delG mutation. Sixty-five patients showing a homozygous 35delG mutation were examined regarding their audiologic phenotype. RESULTS: In general, these patients (70%) showed a prelingual, sensorineural, bilateral, symmetric hearing impairment without progression. The audiograms demonstrated sloping as well as flat patterns. CONCLUSIONS: The severity of hearing impairment varied in 30% of all analyzed patients, making genetic counseling difficult.
Authors: S Riazuddin; C M Castelein; Z M Ahmed; A K Lalwani; M A Mastroianni; S Naz; T N Smith; N A Liburd; T B Friedman; A J Griffith; S Riazuddin; E R Wilcox Journal: Nat Genet Date: 2000-12 Impact factor: 38.330
Authors: Susan Kupka; Tímea Tóth; Maciej Wróbel; Ulrike Zeissler; Witold Szyfter; Krzysztof Szyfter; Grazyna Niedzielska; Jerzy Bal; Hans-Peter Zenner; István Sziklai; Nikolaus Blin; Markus Pfister Journal: Hum Mutat Date: 2002-03 Impact factor: 4.878