engleski

The MECP2 gene mutation screening in Rett syndrome patients from Croatia

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder almost exclusively affecting females and is usually sporadic. Mutations in MECP2 gene have been found in more than 80% of females with typical features of RTT. In this study, we analyzed 15 sporadic cases of RTT. In 7 of 15 patients (47%), we detected pathogenic mutations in the coding parts of MECP2 fourth exon. We found two missense (T158M, R133C), two nonsense (R168X, R270X), two frameshift mutations (P217fs and a double deletion of 28-bp at 1132-1159 and 10-bp at 1167-1176), and one in-frame deletion (L383_E392del10). To our knowledge, the last two mutations have not been reported yet. We also detected one previously described polymorphism (S194S). In conclusion, these results show that the fourth exon should be the first one analyzed because it harbors most of the known mutations. Moreover, mutation-negative cases should be further analyzed for gross rearrangements. This is the first study of its kind in Croatia and it enabled us to give the patients an early confirmation of RTT diagnosis.

MECP2 gene ; mutation ; Rett syndrome

Rad je prezentiran na skupovima: a) Cell Signaling World 2006 : Signal Transduction Pathways as therapeutic targets, održanom od 25.-28.01.2006.g., Luxembourg, Luxembourg ; (poster) Knjiga sažetaka str. 548-548 ; b) European Human Genetics Conference 2006, održanom 06.-09-05-2006, Amsterdam, Nizozemska ; (predavanje) zbornik u: European Journal of Human Genetics (ISSN 1018-4813) 14 (2006) (S) , str. 225-232 ; c) Četvrti hrvatski kongres humane genetike s međunarodnim sudjelovanjem, održan od 18.-20.10.2007., Malinska, Hrvatska ; Knjiga sažetaka u: Paediatria Croatica 51 (2007) str. 148-148.