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. 2017 Aug 10;12(8):e0183406. doi: 10.1371/journal.pone.0183406

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

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
PMCID: PMC5552315  PMID: 28797072

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


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