| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-75 |
Sentence |
denotes |
Coincidence of mutations in different connexin genes in Hungarian patients. |
| T2 |
76-197 |
Sentence |
denotes |
Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. |
| T3 |
198-325 |
Sentence |
denotes |
Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. |
| T4 |
326-424 |
Sentence |
denotes |
Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. |
| T5 |
425-689 |
Sentence |
denotes |
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. |
| T6 |
690-813 |
Sentence |
denotes |
Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. |
| T7 |
814-907 |
Sentence |
denotes |
One out of these 11 patients showed homozygous -3170G>A genotype in combination with p.R127H. |
| T8 |
908-1129 |
Sentence |
denotes |
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. |
| T9 |
1130-1290 |
Sentence |
denotes |
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. |
