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Table 1 Genetic variants in the ARSA gene in Sri Lankan patients with MLD

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

Patient numberAge range at diagnosis
(years)
PhenotypeNucleotide substitutionAmino acid changeZygosityPseudo deficiency allele
010–5Infantilec.342C>T
c.1055A>G
p.Arg114X
p.Asn350Ser
Compound heterozygotePresent
026–10Late juvenilec.342C>T
c.601T>C
p.Arg114X
p.Tyr201His
Compound heterozygoteNo
030–5Infantilec.1055A>G
c.1109G>A
p.Asn350Ser
pArg370Gln
Compound heterozygotePresent
040–5Infantilec.841G>A
c.1055A>G
p.Asn350Ser
p.Asp281Asn
Compound heterozygotePresent
0536–40Adultc.1055A>G
c.1115G>A
p.Asn350Ser
and
p.Arg372Gln
Compound heterozygotePresent
0640–45Adultc.1055A>G
c.1115G>A
p.Asn350Ser
and
p.Arg372Gln
Compound heterozygotePresent
070–5Infantilec.251C>T
c.847G>A
p.Pro84Lys
p.Asp283Asn
Compound heterozygoteNo
086–10Early juvenilec.1178C>G
c.1425C>A
p.Thr393Ser
p.Ala344Asp
Compound heterozygoteNo
090–5Infantilec.1178C>G
c.1425C>A
p.Thr393Ser
p.Ala344Asp
Compound heterozygoteNo
100–5Infantilec.938G>Ap.Arg313GlnHomozygoteNo
1130–35Adultc.251C>Tp.Pro84LysHeterozygoteNo
1230–35Adultc.847G>Ap.Asp283AsnheterozygoteNo
130–5Infantilec.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
1830–35Adultc.346C>T
c.1178C>G
p.Arg116Ter
p.Thr393Ser
HeterozygoteNo
1940–45Adultc.346C>Tp.Arg116TerHeterozygoteNo
2030–35Adultc.346C>T
c.1178C>G
p.Arg116Ter
p.Thr393Ser
HeterozygoteNo