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• W2040654441 abstract "Mutations in the genes COL6A1, COL6A2, COL6A3 have been associated with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathies. UCMD is characterized by an early onset generalized muscle weakness, contractures of joints and hyper-extensibility in distal joints. It was usually considered that Ullrich’s disease is inherited in an autosomal recessive manner and Bethlem myopathy in an autosomal dominant manner. This work focused on the analysis in term of mode of inheritance, nature of mutations, and putative consequences, of 12 UCMD patients with mutations in COL6A1. Mutations were searched on COL6A1-cDNA, by direct sequencing of eight overlapping PCR fragments after RNA extraction from cultured fibroblasts. Mutations were then confirmed at the genomic level on both children and parents. All patients carried a mutation in COL6A1. Five different missense mutations, all dominant de novo were found in five of the patients. Among the seven remaining patients, three deletions of entire exons were identified; one homozygous deletion of exon 4 generating a frame shift, two heterozygous deletion of exon 11 (del GEKGSRGEK), two heterozygous deletion of exon 12 (del GSRGPKGYK) and finally, two splice mutations (c.1003-1G > A) and (c.1675-6 G > C). We also showed that identical mutations at the cDNA level may correspond to distinct mutations at the genomic level. In conclusion, (i) The cDNA approach allowed identification of pathogenic mutations that can be missed with the approach on genomic DNA (exon sequencing). (ii) An identical consequence on cDNA may have different genomic origins. (iii) Although some de novo dominant mutations were previously reported in Ullrich’s disease, we demonstrated that most UCMD patients appeared to have dominant rather than recessive disease. This is of an important point concerning the genetic diagnosis as the approach by linkage analysis is not relevant to detect these families." @default.
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• W2040654441 date "2007-10-01" @default.
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• W2040654441 title "C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy" @default.
• W2040654441 doi "https://doi.org/10.1016/j.nmd.2007.06.282" @default.
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