TY - JOUR
T1 - Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy
T2 - Phenotype analysis of 11 families linked to the COL6 loci
AU - Demir, E.
AU - Ferreiro, Anna
AU - Sabatelli, P.
AU - Allamand, V.
AU - Makri, S.
AU - Echenne, B.
AU - Maraldi, M.
AU - Merlini, L.
AU - Topaloglu, H.
AU - Guicheney, P.
PY - 2004/4
Y1 - 2004/4
N2 - Ullrich's congenital muscular dystrophy (UCMD) is an autosomal recessive myopathy characterised by neonatal muscle weakness, proximal joint contractures and distal hyperlaxity. Mutations in the COL6A1, COL6A2 (21 q22.3) and COL6A3 (2 q37) genes, encoding the α1, α2, and α3 chains of collagen VI, respectively, have been recently identified as responsible for UCMD in a total of 9 families. We investigated in detail the clinical and morphological phenotype of 15 UCMD patients from 11 consanguineous families showing potential linkage either to 21 q22.3 (6 families) or to 2q37 (5 families). Collagen VI deficiency was confirmed on muscle biopsies or skin fibroblasts in 8 families. Although all patients shared a common phenotype, a great variability in severity was observed. Collagen VI deficiency in muscle or cultured fibroblasts was complete in the severe cases and partial in the milder ones, which suggests a correlation between the degree of collagen VI deficiency and the clinical severity in UCMD. No significant phenotypical differences were found between the families linked to each of the 2 loci, which confirms UCMD as a unique entity with underlying genetic heterogeneity.
AB - Ullrich's congenital muscular dystrophy (UCMD) is an autosomal recessive myopathy characterised by neonatal muscle weakness, proximal joint contractures and distal hyperlaxity. Mutations in the COL6A1, COL6A2 (21 q22.3) and COL6A3 (2 q37) genes, encoding the α1, α2, and α3 chains of collagen VI, respectively, have been recently identified as responsible for UCMD in a total of 9 families. We investigated in detail the clinical and morphological phenotype of 15 UCMD patients from 11 consanguineous families showing potential linkage either to 21 q22.3 (6 families) or to 2q37 (5 families). Collagen VI deficiency was confirmed on muscle biopsies or skin fibroblasts in 8 families. Although all patients shared a common phenotype, a great variability in severity was observed. Collagen VI deficiency in muscle or cultured fibroblasts was complete in the severe cases and partial in the milder ones, which suggests a correlation between the degree of collagen VI deficiency and the clinical severity in UCMD. No significant phenotypical differences were found between the families linked to each of the 2 loci, which confirms UCMD as a unique entity with underlying genetic heterogeneity.
KW - Collagen VI
KW - Congenital muscular dystrophy
KW - Molecular genetics
KW - Phenotype analysis
KW - Ullrich
UR - http://www.scopus.com/inward/record.url?scp=2442436625&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2442436625&partnerID=8YFLogxK
U2 - 10.1055/s-2004-815832
DO - 10.1055/s-2004-815832
M3 - Article
C2 - 15127309
AN - SCOPUS:2442436625
VL - 35
SP - 103
EP - 112
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 2
ER -