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. 2020 Jan 22;13:40. doi: 10.1186/s13104-020-4908-6

Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

D Hettiarachchi 1,, V H W Dissanayake 1
PMCID: PMC6977245  PMID: 31969187

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.

Genetic variants in the ARSA gene in Sri Lankan patients with MLD

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]

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