Skip to main content

Table 2 Summary of clinical and genomic data in the analyzed BM/UCMD patients.

From: Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

SAMPLE ID COL6A1-A2-A3
Genomic Sequencing
Inheritance Sex Presentation Age at review, yr Max motor ability
(Power Grade)
Contractures Distal laxity Skin phenotype Creatine kinase level* Respiratory function
(% of predicted)
Cardiac evaluation Collagen VI SKM Array
Results
1 (BM) [26] COL6A2
c.2947_2952del 6 het (mat)
Sporadic F 3 yrs, difficulty in running & climbing stairs 20 Walked 15 mo-present Neck, elbows, fingers, knees, ankles Fingers Rough skin, dystrophic nails, cheloids 3.5 52% normal Mildly reduced at BM of several muscle fibers chr21 g.(46352739-46352798) _ (46354892-46354936) del
2 (UCMD) COL6A1
c.350 C>T het p.V117A (pat)
Sporadic M Birth, hip dislocation 4 Able to walk
4 UL and 3,4 LL
Knees, ankles Fingers none 1.5 89% normal ND -
3 (BM) - Familial F 3 yrs, difficulty in running & climbing stairs 48 Walked 13 mo-present Neck, elbows, fingers, ankles none none 2 58% normal ND -
4 (BM) - Familial AD M 3 yrs, unable to collect objects from the floor 24 Walked 12 mo-present Neck, elbows, fingers, knees, ankles Fingers Hypertrophic scars 1.5 74% normal Mildly reduced at BM of some muscle fibers chr10 g:(33176784_33176843) _(33178291_33178350)del
5 (BM) [45] - Familial AD M 18 yrs, reduced stamina 36 Walked 12 mo-present Neck, fingers, knees, ankles none none 4 95% normal Normal amount and localization chr12 g:(54068784_54068843) _(54070617_54070676)dup
6 (BM) - Sporadic M 5 yrs, difficulty in bending forward 15 Walked 12 mo-14 yrs Neck, trunk, elbows, fingers, hips, knees, ankles Fingers none 18 44% normal Normal amount and localization -
7 (BM) - Familial AD M 30 yrs, easily fatigued, falls 60 Walked 12 mo-present Fingers, ankles Fingers none 2.5 ND normal Normal amount and localization -
8 (BM) - Familial AD F 5 yrs, contractures 39 Walked 12 mo-present Shoulders, elbows, fingers, hips None none 0.8 ND Sinus tachycardia ND -
9 (UCMD) - Sporadic F Birth with pes talus 3 Walked 14 mo-present none Fingers none 2 ND ND Reduced at BM of muscle fibers -
10 (UCMD) [11] - Sporadic F Birth with delay in motor milestones 8 Able to walk
4 UL and LL
none Fingers Follicular hyperplasia normal 85% normal Reduced at BM of muscle fibers -
11 (UCMD) - Sporadic M 2 yrs, hyperlaxity and hyperCK 8 Able to walk
1 hip flex - 3 knees ext
Fingers, hip, knees, ankles None none 2 33% normal ND -
12 (UCMD) - Sporadic F 18 mo, unable to walk 31 Able to walk 24 mo-12 yrs Neck, trunk, elbows, fingers, hips, knees, ankles None none 1.5 62% normal Normal amount and localization -
13 (UCMD) - Sporadic F Birth, floppiness 3 Walked 18 mo-present Fingers, knees, ankles Fingers Follicular hyperplasia 2 ND ND Reduced at the BM of muscle fibers -
14 (UCMD) - Sporadic M Birth 4 Able to walk at 3 yrs Congenital kyphosis Fingers Follicular hyperplasia normal ND normal ND -
  1. *Creatine kinase level: times the upper value of normal.
  2. UL: upper limbs; LL: lower limbs; AD: autosomal dominant; yrs: years; mo: months; ND: not done; SkM: skeletal muscle; BM: basement membrane