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Gene: COL6A1

Green List (high evidence)

Ullrich congenital muscular dystrophy-1 is characterized by generalized muscle weakness and hypermobility of distal joints in conjunction with variable contractures of more proximal joints. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients present at birth and never achieve ability to independent walk, whereas others gain and maintain ability to walk independently into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature. Well established gene-disease associations. May be observed prenatally with reduced fetal movements.

AR variants are usually nonsense or frameshift, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly.
AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes.

COL6A1 accounts for 35-38% of Collagen VI-Related Dystrophies cases

Additional condition Bethlem myopathy 1A MIM#158810 - AD inheritance (rare reports of AR forms). Far greater variability in age of onset of muscle weakness, may be into adulthood. Milder/later onset than UCMD-1.

Created: 17 Oct 2024, 11:13 a.m. | Last Modified: 17 Oct 2024, 11:13 a.m.

Panel Version: 1.420

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Ullrich congenital muscular dystrophy 1A MIM#254090

Publications

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