Literature DB >> 25933069

Correction: development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han.   

Abstract

Entities:  

Year:  2015        PMID: 25933069      PMCID: PMC4416708          DOI: 10.1371/journal.pone.0127254

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


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There are a number of errors in the published article. Reference sequences for genes with identified variants were inadvertently omitted from the published pdf. The GenBank reference sequence records are: COL1A1 gene: NG_007400.1, COL1A1 mRNA: NM_000088.3 COL1A2 gene: NG_007405.1, COL1A2 mRNA: NM_000089.3 The variant in patient 2, reported as c.2191G>C in Table 2 should be c.2192G>C, which yields the stated amino acid change p.Gly731Ala. Please see the correct Table 2 here.
Table 2

Mutations identified in OI patients.

SampleGeneExon/IntronMutation (cDNA)Mutation (Protein)Mutation TypeZygosity of mutation
1 COL1A1 Intron 1c.104-1 G>ANASplicingHeterozygous
2 COL1A1 Exon 32c.2192 G>C* p.Gly731AlaMissenseHeterozygous
3 COL1A1 Exon 38c.2569 G>Tp.Gly857CysMissenseHeterozygous
4 COL1A2 Exon 24c.1135 G>Ap.Gly379ArgMissenseHeterozygous
5 COL1A1 Intron 17c.1155+1 G>ANASplicingHeterozygous
6 COL1A1 Intron 17c.1155+1 G>ANASplicingHeterozygous
7 COL1A2 Intron 19c.937-3 C>TNASplicingHeterozygous
8 COL1A2 Exon 23c.1310_1312dupGATp.Asp437dupInsertion
9 COL1A1 Exon 15c.967 G>Ap.Gly323ArgMissenseHeterozygous
10 COL1A2 Exon 38c.2332 G>Ap.Gly778SerMissenseHeterozygous
11 COL1A2 Exon 40c.2467 G>Ap. Gly823SerMissenseHeterozygous
12 COL1A1 Exon 48c.3433 G>Tp.Gly1145CysMissenseHeterozygous
13 COL1A2 Exon 52c.4048 G>Ap.Gly1350SerMissenseHeterozygous

* new mutation found in the present study

* new mutation found in the present study The variant in patient 4, c.1135G>A, p.Gly379Arg in COL1A2, reported to be in exon 24 actually lies in exon 21. The variant in patient 7, c.937-3C>T in COL1A2, reported to be in intron 19 actually lies in intron 18. Sources for the sequence files in S3 Supplementary data information can be found online in the Ensembl database: http://www.ensembl.org/index.html as well as the Osteogenesis Imperfecta Variant Database: https://oi.gene.le.ac.uk/home.php
  1 in total

1.  Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Authors:  Yao Wang; Yazhou Cui; Xiaoyan Zhou; Jinxiang Han
Journal:  PLoS One       Date:  2015-03-05       Impact factor: 3.240

  1 in total

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