| Literature DB >> 28797072 |
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong.
Abstract
[This corrects the article DOI: 10.1371/journal.pone.0170517.].Entities:
Year: 2017 PMID: 28797072 PMCID: PMC5552315 DOI: 10.1371/journal.pone.0183406
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240
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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
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 | |
|---|---|---|---|---|---|---|---|---|
| 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 | 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