Author/Editor		Battelino, S; Žargi, M; Repič-Lampret, B
Title		Gluhost in genetika - naše izkušnje s preiskavo gena GJB2 za koneksin 26
Translated title		Deafness and genetics - our experience with investigation of gene GJB2 for connexin 26
Type		članek
Source		In: Hernja N, Brumec M, editors. Zbornik referatov 3. slovenskega posveta o rehabilitaciji oseb s polževim vsadkom; 2006 nov 10-11; Maribor. Maribor: Center za sluh in govor,
Publication year		2006
Volume		str. 35-8
Language		slo
Abstract		Introduction. Mutations in the GJB2 gene, encoding connexin 26, are the most common known genetic cause of prelingual deafness. It is a member of the connexin-family of gap-junction proteins in the inner ear, responsible for intracellular communication and homeostasis. Identification of mutation, involved in hearing loss, should provide a better understanding of the biology of normal and abnormal hearing, help from the basis for diagnosis and may facilitate development of strategies for treatment. Methods. On University Medical Centre, Dept. of Otorhinolaryngology and Cervicofacial surgery 52 deaf patients were genetically tested. In 41 patients the genetic testing was concluded, 26 with congenital nonsindromic deafness, 15 with severe progressive nonsindromic sensorineural hearing loss. Results. The mutation on the connexin gene (13q11-12) was found in 12 patients (29 %). The most frequent mutation found in 11 patients was deletion of guanine at position 35 (35deIG). In 9 cases the mutation was homozygous and in three heterozygous. The most frequent mutation found in 11 patients was deletion of guanine at position 35 (35deIG), and one patient has homozygous substitution G to A in position 71 (W24X). In two compound heterozygous patients in one the substitutions G to position T in position 139 (35deIG/E47X) was found and in the second one, the second mutation is still unidentified. Conclusions. Further analysis of genome testing is advised, especially those that have only one mutant allele in connexin 26 gene.
Descriptors		DEAFNESS CONNEXINS POLYMERASE CHAIN REACTION