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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 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.1425C>A

p.Thr393Ser

p.Ala344Asp

Compound heterozygote

No

09

0–5

Infantile

c.1178C>G

c.1425C>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