Literature DB >> 31969187

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

D Hettiarachchi1, V H W Dissanayake2.   

Abstract

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.

Entities:  

Year:  2020        PMID: 31969187      PMCID: PMC6977245          DOI: 10.1186/s13104-020-4908-6

Source DB:  PubMed          Journal:  BMC Res Notes        ISSN: 1756-0500


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 numberAge range at diagnosis (years)PhenotypeNucleotide substitutionAmino acid changeZygosityPseudo deficiency allele
010–5Infantile

c.342C>T

c.1055A>G

p.Arg114X

p.Asn350Ser

Compound heterozygotePresent
026–10Late juvenile

c.342C>T

c.601T>C

p.Arg114X

p.Tyr201His

Compound heterozygoteNo
030–5Infantile

c.1055A>G

c.1109G>A

p.Asn350Ser

pArg370Gln

Compound heterozygotePresent
040–5Infantile

c.841G>A

c.1055A>G

p.Asn350Ser

p.Asp281Asn

Compound heterozygotePresent
0536–40Adult

c.1055A>G

c.1115G>A

p.Asn350Ser

and

p.Arg372Gln

Compound heterozygotePresent
0640–45Adult

c.1055A>G

c.1115G>A

p.Asn350Ser

and

p.Arg372Gln

Compound heterozygotePresent
070–5Infantile

c.251C>T

c.847G>A

p.Pro84Lys

p.Asp283Asn

Compound heterozygoteNo
086–10Early juvenile

c.1178C>G

c.1031C>A

p.Thr393Ser

p.Ala344Asp

Compound heterozygoteNo
090–5Infantile

c.1178C>G

c.1031C>A

p.Thr393Ser

p.Ala344Asp

Compound heterozygoteNo
100–5Infantilec.938G>Ap.Arg313GlnHomozygoteNo
1130–35Adultc.251C>Tp.Pro84LysHeterozygoteNo
1230–35Adultc.847G>Ap.Asp283AsnheterozygoteNo
130–5Infantile

c.256C>T

c.847G>A

p.Arg86Trpp.Asp283AsnCompound heterozygoteNo
1436–40Adultc.251C>Tp.Pro84LysHeterozygoteNo
156–10Late juvenilec.1178C>Gp.Thr393SerHeterozygoteNo
1630–35Adultc.1055A>Gp.Asn350SerHeterozygotePresent
1736–40Adultc.1055A>Gp.Asn350SerHeterozygotePresent
1830–35Adult

c.346C>T

c.1178C>G

p.Arg116Ter

p.Thr393Ser

HeterozygoteNo
1940–45Adultc.346C>Tp.Arg116TerHeterozygoteNo
2030–35Adult

c.346C>T

c.1178C>G

p.Arg116Ter

p.Thr393Ser

HeterozygoteNo
Genetic variants in the ARSA gene in Sri Lankan patients with MLD c.342C>T c.1055A>G p.Arg114X p.Asn350Ser c.342C>T c.601T>C p.Arg114X p.Tyr201His c.1055A>G c.1109G>A p.Asn350Ser pArg370Gln c.841G>A c.1055A>G p.Asn350Ser p.Asp281Asn c.1055A>G c.1115G>A p.Asn350Ser and p.Arg372Gln c.1055A>G c.1115G>A p.Asn350Ser and p.Arg372Gln c.251C>T c.847G>A p.Pro84Lys p.Asp283Asn c.1178C>G c.1031C>A p.Thr393Ser p.Ala344Asp c.1178C>G c.1031C>A p.Thr393Ser p.Ala344Asp c.256C>T c.847G>A c.346C>T c.1178C>G p.Arg116Ter p.Thr393Ser c.346C>T c.1178C>G p.Arg116Ter p.Thr393Ser The corrected Table 1 is shown in this erratum.
  1 in total

1.  Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Authors:  D Hettiarachchi; V H W Dissanayake
Journal:  BMC Res Notes       Date:  2019-11-06
  1 in total

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