Affiliation: University of Vienna
Frei K, Szuhai K, Lucas T, Weipoltshammer K, Schöfer C, Ramsebner R, et al
. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet. 2002;10:427-32 pubmed
..7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method. ..
Frei K, Ramsebner R, Lucas T, Baumgartner W, Schoefer C, Wachtler F, et al
. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hear Res. 2004;196:115-8 pubmed
..Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria. ..
Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner W, et al
. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res. 2004;194:81-6 pubmed
..Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations. ..