Literature DB >> 28797072

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.   

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


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.

SexAge (Y)Proximal joint contractureDistal hyperlaxityKeloidScoliosisDDHTorticollisWalk independentlyLoss of ambulation (Y)Pathogenic variants in the COL6A genes (all heterozygous unless otherwise indicated)
P1M17#pp?pnnYes (>2y)7yCOL6A1: c.850 G>A (p.Gly284Arg)
P2M22ppnppnYes (1y6-7m)12yCOL6A1: c.815 G>T (p.Gly272Val)
P3F22ppnpnnYes (1y1-2m)not yetCOL6A1: c.868 G>A (p.Gly290Arg)
P4F15ppppnnYes (<2y)not yetCOL6A1: c.868 G>A (p.Gly290Arg)
P5^F14npppppYes (1y2m)not yetCOL6A3: c.1676_1677insT (p.Lys560*) (homo)
P6^M13npnpnnYes (1y2m)not yetCOL6A3: c.1676_1677insT (p.Lys560*) (homo)
P7M10pppnnnYes (1y6-7m)8yCOL6A1: c.815 G>T (p.Gly272Val)
P8M17ppnpnnYes (1y6m)10yCOL6A2: c.955-2A>G
P9F14ppppnnYes (1y2m)not yetCOL6A1: c.868 G>A (p.Gly290Arg)
P10M6npEquivocalnnnYes (1y2m)not yetNot found
P11M14#pp?pnnYes (<2y)12yCOL6A3: c.6309+2 T>A
P12M7nppnnnYes (1y6m)not yetCOL6A3: c.6157G>T (p.Gly2053Cys)
P13M6pppnppYes (2y)not yetCOL6A1: c.886G>A (p.Gly296Arg)
P14M1y11mnpEquivocalppnnonoCOL6A2: c.1043_1051delCTGGAAACC, (p.Pro348_Asn350del)
P15M5y1mpppnnnnonoCOL6A2: exon5 deletion

#: the age of death;

^: siblings;

?: no record;

p: present; n: nil

#: 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.

SexCurrent age/ Age of onsetHypotonia in infancyWalk independentlyEpilepsyIntelligenceBrain MRI (abnormal white matter signal)Pathogenic variants in LAMA2
P16F31y/6mpnpmild MRpc.624 delC (p.Leu209*) (m)
c.2209-3_2209–2 delCA (f)
P17^M27y/6mpnpmoderate MRpc.8654 T>C (p.Leu2885Pro) (m)
c.2945 insG (p.Ser982Arg fs*16) (f)
P18^M#12y/4mpnpmild MRpc.8654 T>C (p.Leu2885Pro) (m)
c.2945 insG (p.Ser982Arg fs*16) (f)
P19M18y/4mPnnborderlinepc.6513_6515 delTGT (p.Val2172del) (m)
c.4311 G>A (p.Gln437Gln) (f)
P20F16y/4mPpnnormalpc.8989-12 C>G (m)
c.2451-6 A>G (f)
P21F18y/5mpnnnormalpc.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 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.
  1 in total

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

Authors:  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
Journal:  PLoS One       Date:  2017-02-09       Impact factor: 3.240

  1 in total
  1 in total

1.  AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.

Authors:  Jean-Baptiste Dupont; Jianjun Guo; Edith Renaud-Gabardos; Karine Poulard; Virginie Latournerie; Michael W Lawlor; Robert W Grange; John T Gray; Ana Buj-Bello; Martin K Childers; David L Mack
Journal:  Mol Ther       Date:  2019-11-11       Impact factor: 11.454

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.