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Frameshift mutation in the collagen VI gene causes Ullrich's disease
Author(s) -
Higuchi Itsuro,
Shiraishi Tadafumi,
Hashiguchi Teruto,
Suehara Masahito,
Niiyama Takahito,
Nakagawa Masanori,
Arimura Kimiyoshi,
Maruyama Ikuro,
Osame Mitsuhiro
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1120
Subject(s) - frameshift mutation , exon , collagen vi , muscle contracture , gene , mutation , medicine , collagen disease , pathology , genetics , biology , microbiology and biotechnology , anatomy
Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a premature termination codon, and results in a truncated collagen VI alpha 2 chain. Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.