Loading...
Please wait, while we are loading the content...
Similar Documents
Coincidence of mutations in different connexin genes in Hungarian patients.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Tóth, Tímea Kupka, Susan Haack, Birgit Fazakas, Ferenc Muszbek, László Blin, Nikolaus Pfister, Markus Sziklai, István |
| Copyright Year | 2007 |
| Abstract | Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. Therefore, we screened 47 Hungarian GJB2- heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites. Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. One out of these 11 patients showed homozygous -3170G>A genotype in combination with p.R127H. Next to the GJB2 mutations we noted 2 cases of deletion in GJB6 [Delta(GJB6-D13S1830)] and 3 (2 new and 1 described) base substitutions in GJB3 [c.357C>T, c.798C>T and c.94C>T (p.R32W)] which are unlikely disease-causing. Our results suggest the importance of routine screening for the rather frequent -3170G>A mutation (in addition to c.35delG) in patients with hearing impairment. |
| Starting Page | 73 |
| Ending Page | 86 |
| Page Count | 14 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.spandidos-publications.com/ijmm/20/3/315/download |
| PubMed reference number | 17671735v1 |
| Volume Number | 20 |
| Issue Number | 3 |
| Journal | International journal of molecular medicine |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | 5' Untranslated Regions Connexins Deletion Mutation GJB2 gene Gap Junctions Homozygote Hungarian language Labyrinth Open Reading Frames Patients Prelingual sensorineural hearing impairment Sensorineural Hearing Loss (disorder) |
| Content Type | Text |
| Resource Type | Article |
