Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017–2022
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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TopicsMetabolism and Genetic Disorders · Folate and B Vitamins Research · Neonatal Health and Biochemistry
In the published article, there were four errors in Table 3 as published.
- (1) For BCKDHA gene variant c.990_993delCTAC, the “ACMG” classification was erroneously listed as “US,” and it should be corrected to “LP”; the “Evidence” for the variant was incorrectly stated as “PM2_Supporting,” and it should be updated to “PVS1, PM2_Supporting.”
- (2) For CPS1 gene variant c.381+1delG, the “ACMG” classification was erroneously listed as “US,” and it should be corrected to “LP”; the “Evidence” for the variant was incorrectly stated as “PM2_Supporting,” and it should be updated to “PVS1, PM2_Supporting.”
- (3) For OTC gene variant chrX:g.34148019_38664751del, the “Evidence” was incorrectly stated as “1A(0) + 2A(1) + 3A(0) + 4L(0.45) = 1.45,” and it should be updated to “1A(0) + 2A(1) + 3A(0) = 1.”
- (4) For PCCB gene variant c.898dupC, the “ACMG” classification was erroneously listed as “US,” and it should be corrected to “P”; the “Evidence” for the variant was incorrectly stated as “PM3_Strong, PM2_Supporting,” and it should be updated to “PVS1, PM3_Strong, PM2_Supporting.”
The correct Table 3 and its caption appear below.
In the published article, there were two errors. The text in the Results and Discussion sections referencing Table 3 requires updates to align with the corrected information of Table 3.
- A correction has been made to Results Section, Gene detection in patients with inherited metabolic disorders, Paragraph 3.
The sentences previously stated:
“The pathogenicity of the 23 previously unreported variants mentioned above was analyzed using the ACMG rating system. Two mutations [a large 4.52 Mb hemizygous deletion containing the OTC gene (seq[hg19]del(X)(p21.1p11.4)chrX:g.34148019_38664751del) and c.1679_c.1680insA in the MCCC1 gene] were identified as pathogenic and 4 mutations (c.1000G>A in the BCKDHA gene, c.879delT in the SLC25A13 gene, c.1888G>A in the MMUT gene, and c.181C>T in the PCCB gene) were identified as likely pathogenic. The remainder were of uncertain significance, of which four were reported with different nucleotide changes at the same position, three variants were indexed in the Clinvar database but lacked relevant literature, and the remaining ten unreported variants of unknown significance included two frame-shift mutations, two termination mutations, two shear mutations and one intronic variant. The data were shown in Table 3.”
The corrected sentence appears below:
“The pathogenicity of the 23 previously unreported variants mentioned above was analyzed using the ACMG rating system. Three mutations [a large 4.52 Mb hemizygous deletion containing the OTC gene (seq[hg19]del(X)(p21.1p11.4)chrX:g.34148019_38664751del), c.898dupC in the PCCB gene and c.1679_c.1680insA in the MCCC1 gene] were identified as pathogenic and 6 mutations (c.1000G>A and c.990_993del CTAC in the BCKDHA gene, c.879delT in the SLC25A13 gene, c.381+1delG in the CPS1 gene, c.1888G>A in the MMUT gene, and c.181C>T in the PCCB gene) were identified as likely pathogenic. The remainder were of uncertain significance, of which four were reported with different amino acid substitutions at the same position, three variants were indexed in the Clinvar database lacked relevant literature, and the remaining seven unreported variants of unknown significance included a synonymous mutation, two termination mutations, three missense mutations and one intronic variant. The data were shown in Table 3.”
- A correction has been made to Discussion Section, Paragraph 9.
The sentences previously stated:
“In addition, we analyzed 23 previously unreported genetic variants and evaluated their pathogenicity using the ACMG rating system. Among these, 2 variants were classified as pathogenic: a large 4.52 Mb hemizygous deletion containing the OTC gene (seq[hg19]del(X)(p21.1p11.4)chrX:g.34148019_38664751del) and the c.1679_c.1680 insA mutation in the MCCC1 gene. Furthermore, 4 variants were rated as likely pathogenic: c.1000G>A in the BCKDHA gene, c.879delT in the SLC25A13 gene, c.1888G>A in the MMUT gene, and c.181C>T in the PCCB gene. The remaining 17 unreported variants were categorized as uncertain significance by the ACMG system.”
The corrected sentence appears below:
“In addition, we analyzed 23 previously unreported genetic variants and evaluated their pathogenicity using the ACMG rating system. Among these, 3 variants were classified as pathogenic: a large 4.52 Mb hemizygous deletion containing the OTC gene (seq[hg19]del(X) (p21.1p11.4)chrX:g.34148019_38664751del), c.898dupC in the PCCB gene and the c.1679_c.1680insA mutation in the MCCC1 gene. Furthermore, 6 variants were rated as likely pathogenic: c.1000G>A and c.990_993delCTAC in the BCKDHA gene, c.879delT in the SLC25A13 gene, c.381+1delG in the CPS1D, c.1888G>A in the MMUT gene, and c.181C>T in the PCCB gene. The remaining 14 unreported variants were categorized as uncertain significance by the ACMG system.”
The authors apologize for these errors and state that these do not change the scientific conclusions of the article in any way. The original article has been updated.