Naslov
Limb girdle muscular dystrophy 2I in Spanish and Croatian population

Autori
Freixas , A ; Canki-Klain, Nina ; Olive, M ; Rodriguez, M ; Calaf, M ; Colomer, J ; Arteaga, R ; Baiget, M ; Gallano, Pia

Izvornik
European ournal of Human Genetics (1018-4813) 14 (2006), Suppl.1;

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

Ključne riječi
Limb Girdle muscular dystrophy; autosomal recessive; LGMD2I; fukutin related protein; FKRP; mutations; Spain; Croatia

Sažetak
Limb Girdle Muscular Dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy caused by mutations in the Fukutin Related Protein(FKRP). This gene is located at 19q13.3 and contains four exons. Immunohistochemical analysis is not possible to date because no specific antibodies have been isolated. Thus, mutational analysis is the method to obtain an accurate molecular diagnosis of the disease. The aim of this work is: 1) to diagnose the patients with clinical features suggesting LGMD2I, 2) to observe the frequency of this pathology in these two populations and, 3) to offer genetic counselling to the affected families. We studied 60 Spanish and 10 Croatian patients presenting a LGMD2I phenotype and in whom we previously excluded a dystrophinopathy, LGMD2A, LGMD2C and LGMD2D. The molecular study was performed following two steps: 1) The analysis of the L276L mutation reccurrent in North European population) by restriction enzyme analysis. 2)The sequencing of the unique coding exon 4. We found four missens mutations in seven patients: E55Q, R143S, L276L and G373S, two of them were novel mutations: E55Q and g373S. Their pathogenia were demonstrate analysing 50 chromosomes from normal controls and 50 chromosomes from other myopathy patients. The L276L mutation was identified in four patients (3Spanish and 1 Croatian) and should be considered the more frequent FKRP mutation in the population studied. The low number of FKRP mutations identified despite the patients were very well classified could indicate the low frequency of LGMD2I in these two populations.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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