Naslov
Mutation spectrum of CAPN3 gene in LGMD 2A patients in Croatia.

Autori
Milić, Astrid ; Piluso, G., Ventriglia, V., D˘Amico, F. ; Kovač, Biserka ; Trlaja, Anuska ; Mitrović, Zoran ; Zurak, Niko ; Politano, L. ; Canki-Klain, Nina

Izvornik
European Journal of Human Genetics (1018-4813) 10 (2002), Suppl.1;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
Calpain 3 gene; mutations; R541W; R49H

Sažetak
Beckground.Our previous results based on analysis of 28 patients from 18 families showed that 23 of 36 CAPN3 chromosomes(63, 8%) have 550delA mutation, and Y537X mutation in one family. Here we report the results of additional eight families together with previously studied in which one or both mutations remained unknown. Objective. To determine mutation spectrum of CAPN3 in patient from Croatia. Patients and Methodes. During 3-year-long project concerning etiology and epidemiology of muscular dystrophy in our country we selected by clinicalmand family study 37 patients from 27 potential family with calpainopathy. In only one sporadic patient diagnosis was confirmed by CAPN3 Western blot. When three new mutations: R541W, R49H and delFWSAL were identified by… … method, we developed screening methods for these mutations which included PCR and use of restriction enzymes. Results. Analysis of 54 CANP3 chromosomes by 5 mutations revealed the presence of 550delA in 36 /54, R541W in 3/54, R49H in 1/54, delFWSAL in 1/54, and Y537 in 1/54. Conclusion. It seems that using the screening of five mutations we should discover 77% of patients with calpainopathy (LGMD2A) in our population. As far as we know mutations R541W and R49H are novel mutations

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA