In Table 1, the COL6A2 mutation in Patient 14 is listed incorrectly. The mutation should be: c.1043_1051delCTGGAAACC, (p.Pro348_Asn350del). Please see the corrected Table 1 here.
Table 1. Summary of the patients with UCMD.
Sex | Age (Y) | Proximal joint contracture | Distal hyperlaxity | Keloid | Scoliosis | DDH | Torticollis | Walk independently | Loss of ambulation (Y) | Pathogenic variants in the COL6A genes (all heterozygous unless otherwise indicated) | |
---|---|---|---|---|---|---|---|---|---|---|---|
P1 | M | 17# | p | p | ? | p | n | n | Yes (>2y) | 7y | COL6A1: c.850 G>A (p.Gly284Arg) |
P2 | M | 22 | p | p | n | p | p | n | Yes (1y6-7m) | 12y | COL6A1: c.815 G>T (p.Gly272Val) |
P3 | F | 22 | p | p | n | p | n | n | Yes (1y1-2m) | not yet | COL6A1: c.868 G>A (p.Gly290Arg) |
P4 | F | 15 | p | p | p | p | n | n | Yes (<2y) | not yet | COL6A1: c.868 G>A (p.Gly290Arg) |
P5^ | F | 14 | n | p | p | p | p | p | Yes (1y2m) | not yet | COL6A3: c.1676_1677insT (p.Lys560*) (homo) |
P6^ | M | 13 | n | p | n | p | n | n | Yes (1y2m) | not yet | COL6A3: c.1676_1677insT (p.Lys560*) (homo) |
P7 | M | 10 | p | p | p | n | n | n | Yes (1y6-7m) | 8y | COL6A1: c.815 G>T (p.Gly272Val) |
P8 | M | 17 | p | p | n | p | n | n | Yes (1y6m) | 10y | COL6A2: c.955-2A>G |
P9 | F | 14 | p | p | p | p | n | n | Yes (1y2m) | not yet | COL6A1: c.868 G>A (p.Gly290Arg) |
P10 | M | 6 | n | p | Equivocal | n | n | n | Yes (1y2m) | not yet | Not found |
P11 | M | 14# | p | p | ? | p | n | n | Yes (<2y) | 12y | COL6A3: c.6309+2 T>A |
P12 | M | 7 | n | p | p | n | n | n | Yes (1y6m) | not yet | COL6A3: c.6157G>T (p.Gly2053Cys) |
P13 | M | 6 | p | p | p | n | p | p | Yes (2y) | not yet | COL6A1: c.886G>A (p.Gly296Arg) |
P14 | M | 1y11m | n | p | Equivocal | p | p | n | no | no | COL6A2: c.1043_1051delCTGGAAACC, (p.Pro348_Asn350del) |
P15 | M | 5y1m | p | p | p | n | n | n | no | no | COL6A2: exon5 deletion |
#: the age of death;
^: siblings;
?: no record;
p: present; n: nil
In Table 2, the LAMA2 mutation in Patient 20 is listed incorrectly. The mutation should be: c.2451-6 A>G. Please see the corrected Table 2 here.
Table 2. Summary of the patients with MDCMD.
Sex | Current age/ Age of onset | Hypotonia in infancy | Walk independently | Epilepsy | Intelligence | Brain MRI (abnormal white matter signal) | Pathogenic variants in LAMA2 | |
---|---|---|---|---|---|---|---|---|
P16 | F | 31y/6m | p | n | p | mild MR | p | c.624 delC (p.Leu209*) (m) |
c.2209-3_2209–2 delCA (f) | ||||||||
P17^ | M | 27y/6m | p | n | p | moderate MR | p | c.8654 T>C (p.Leu2885Pro) (m) |
c.2945 insG (p.Ser982Arg fs*16) (f) | ||||||||
P18^ | M | #12y/4m | p | n | p | mild MR | p | c.8654 T>C (p.Leu2885Pro) (m) |
c.2945 insG (p.Ser982Arg fs*16) (f) | ||||||||
P19 | M | 18y/4m | P | n | n | borderline | p | c.6513_6515 delTGT (p.Val2172del) (m) |
c.4311 G>A (p.Gln437Gln) (f) | ||||||||
P20 | F | 16y/4m | P | p | n | normal | p | c.8989-12 C>G (m) |
c.2451-6 A>G (f) | ||||||||
P21 | F | 18y/5m | p | n | n | normal | p | c.2049_2050 delAG (p.Arg683Ser fs*21) (m) |
c.1303 C>T (p.Arg435*) |
#: the age of death;
^: siblings;
p: present; n: nil; f: father; m: mother
The LAMA2 mutation in Patient 20 is also listed incorrectly in the fourth sentence of the second paragraph of the MDCMD subsection of the Results section. The correct sentence is: Three frameshift deletions or insertions (c.624 delC, c.2049_2050delAG, c.2945insG), four splice site variants (c.2209-3_2209-2delCA, c.2451-6A>G, c.4311G>A, c.8989-12 C>G), and one nonsense mutation (c.1303C>T, p.Arg435) were expected to produce truncated proteins.
Reference
- 1.Liang W-C, Tian X, Yuo C-Y, Chen W-Z, Kan T-M, Su Y-N, et al. (2017) Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS ONE 12(2): e0170517 https://doi.org/10.1371/journal.pone.0170517 [DOI] [PMC free article] [PubMed] [Google Scholar]