Author(s):
Santos, Rosário 
; Vieira, Emília ; Rodrigues, Carina ; Jorge, Paula ; Pires, M. Melo ; Guimarães, Ana Paula ; Coelho, T. ; Evangelista, T. ; Santos, M.A. ; Fineza, I. ; Machado, C. ; Ferreira, F. ; Vasconcelos, R. ; Fernandes, H. Cabral ; Santos, H. ; Urtizberea, J.A.
Date: 1999
Persistent ID: http://hdl.handle.net/10198/6142
Origin: Biblioteca Digital do IPB
Subject(s): Autosomal recessive muscular dystrophy; New mutations and phenotypes
Description
A group of 65 patients, comprising 59 apparently unrelated families,
were screened for mutations in the sarcoglycan (SG) genes, as well as in the
CANP3 and DYSF genes. A total of 30 families(36 patients) were characterized
at the molecular level and found to fall into the following groups:
4, LGMD2A; 15, LGMDC; 8, LGMD2D; 3, LGMD2E. Four new mutations
were identi®ed: two in the a-SG and two in the b-SG genes. Only two
mutations, namely D521-T and C283Y, accounted for all of the g-sarcoglycanopathies.
The former was found on two genetic backgrounds for the
D12S232 marker, even among ®ve unrelated patients from the Island of
Madeira. C283Y was found only and in all patients of Gypsy ethnicity,
always on the same D13S232 allelic background, supporting the founder
hypothesis. The a-SG mutation R77C was also particularly prevalent,
accounting for 11 of the 60 mutated chromosomes (18.3%). Marked phenotypic
heterogeneity was observed between and within the families presenting
this mutation in homozygosity. As a whole, the LGMD2D group
presented the widest phenotypic spectrum, while those with b-sarcoglycanopathies,
g-sarcoglycanpathies (with a few striking exceptions) and
calpainopathies, were generally more homogeneous.
