Correction to: BMC Res Notes (2019) 12:726 10.1186/s13104-019-4773-3
After publication of the original article [1], the authors became aware of a typographical error in the original Table 1. Nucleotide substitution c.1425C>A corresponding to amino acid change p.(Ala344Asp) should be corrected as c.1031C>A.
Table 1.
Patient number | Age range at diagnosis (years) | Phenotype | Nucleotide substitution | Amino acid change | Zygosity | Pseudo deficiency allele |
---|---|---|---|---|---|---|
01 | 0–5 | Infantile |
c.342C>T c.1055A>G |
p.Arg114X p.Asn350Ser |
Compound heterozygote | Present |
02 | 6–10 | Late juvenile |
c.342C>T c.601T>C |
p.Arg114X p.Tyr201His |
Compound heterozygote | No |
03 | 0–5 | Infantile |
c.1055A>G c.1109G>A |
p.Asn350Ser pArg370Gln |
Compound heterozygote | Present |
04 | 0–5 | Infantile |
c.841G>A c.1055A>G |
p.Asn350Ser p.Asp281Asn |
Compound heterozygote | Present |
05 | 36–40 | Adult |
c.1055A>G c.1115G>A |
p.Asn350Ser and p.Arg372Gln |
Compound heterozygote | Present |
06 | 40–45 | Adult |
c.1055A>G c.1115G>A |
p.Asn350Ser and p.Arg372Gln |
Compound heterozygote | Present |
07 | 0–5 | Infantile |
c.251C>T c.847G>A |
p.Pro84Lys p.Asp283Asn |
Compound heterozygote | No |
08 | 6–10 | Early juvenile |
c.1178C>G c.1031C>A |
p.Thr393Ser p.Ala344Asp |
Compound heterozygote | No |
09 | 0–5 | Infantile |
c.1178C>G c.1031C>A |
p.Thr393Ser p.Ala344Asp |
Compound heterozygote | No |
10 | 0–5 | Infantile | c.938G>A | p.Arg313Gln | Homozygote | No |
11 | 30–35 | Adult | c.251C>T | p.Pro84Lys | Heterozygote | No |
12 | 30–35 | Adult | c.847G>A | p.Asp283Asn | heterozygote | No |
13 | 0–5 | Infantile |
c.256C>T c.847G>A |
p.Arg86Trpp.Asp283Asn | Compound heterozygote | No |
14 | 36–40 | Adult | c.251C>T | p.Pro84Lys | Heterozygote | No |
15 | 6–10 | Late juvenile | c.1178C>G | p.Thr393Ser | Heterozygote | No |
16 | 30–35 | Adult | c.1055A>G | p.Asn350Ser | Heterozygote | Present |
17 | 36–40 | Adult | c.1055A>G | p.Asn350Ser | Heterozygote | Present |
18 | 30–35 | Adult |
c.346C>T c.1178C>G |
p.Arg116Ter p.Thr393Ser |
Heterozygote | No |
19 | 40–45 | Adult | c.346C>T | p.Arg116Ter | Heterozygote | No |
20 | 30–35 | Adult |
c.346C>T c.1178C>G |
p.Arg116Ter p.Thr393Ser |
Heterozygote | No |
The corrected Table 1 is shown in this erratum.
Footnotes
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Reference
- 1.Hettiarachchi D, Dissanayake VHW. Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) BMC Res Notes. 2019;12:726. doi: 10.1186/s13104-019-4773-3. [DOI] [PMC free article] [PubMed] [Google Scholar]