Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: Phenotype analysis of 11 families linked to the COL6 loci

E. Demir, Anna Ferreiro, P. Sabatelli, V. Allamand, S. Makri, B. Echenne, M. Maraldi, L. Merlini, H. Topaloglu, P. Guicheney

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)103-112
Number of pages10
JournalNeuropediatrics
Volume35
Issue number2
DOIs
Publication statusPublished - Apr 2004

Keywords

  • Collagen VI
  • Congenital muscular dystrophy
  • Molecular genetics
  • Phenotype analysis
  • Ullrich

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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    Demir, E., Ferreiro, A., Sabatelli, P., Allamand, V., Makri, S., Echenne, B., Maraldi, M., Merlini, L., Topaloglu, H., & Guicheney, P. (2004). Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: Phenotype analysis of 11 families linked to the COL6 loci. Neuropediatrics, 35(2), 103-112. https://doi.org/10.1055/s-2004-815832