engleski

Mutation spectrum of CAPN3 gene in LGMD2A patients in Croatia

Background. Our previous results have shown that the most frequent mutation in CANP3 gene in patients from Croatia is the 550delA mutation, while the Y537X mutation was found only in 1 family. We report the results of the screening of CANP3 gene on 27 families, 8 of them never investigated, in which one or both mutations have been identified. Objective. To determine mutation spectrum of CAPN3 in patients from Croatia. Patients and Methods. During a 3-year-long project concerning etiology and epidemiology of muscular dystrophies in our country, 37 patients from 27 families with potential calpainopathy were selected by clinical and family study. In the only sporadic patient the diagnosis was confirmed by CAPN3 Western blot. Beside the 550delA mutation in exon 4, two new mutations (R49H and R541W) and one gross deletion (F200-L204del) were identified by DHPLC, Transgenomic Wave System. Furthermore, 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 (67%), R541W in 3/54 (5.5%), R49H in 1/54 (1.85%), Y537 in 1/54(1.85%) and delFWSAL in 1/54 (1.85%). Conclusions. CANP3 gene screening by 5 mutations is able to identify 77% of patients with calpainopathy (LGMD2A) in our population. R541W and R49H are novel mutations.

calpain 3 gene; mutations; R541W; R49H

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