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Table 1 Reported cases of SLC25A19 variants

From: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Cases

Variants

Phenotype

References

1

c.373G>A, p.Gly125Ser

Neuropathy and bilateral striatal necrosis

[4]

2

c.495G>A, p.Met165Ile

Thiamine metabolism dysfunction syndrome 4

[5]

3

c.505G>A, p.Glu169Lys

Neuropathy

[6, 7]

4

c.530G>C, p.Gly177Ala

Microcephaly

[8,9,10]

5

c.580T>C, p.Ser194Pro

Encephalopathy, childhood

[11]

6

c.869T>A, p.Leu290Gln

Neuropathy and bilateral striatal necrosis

[12]

7

c.910G>A, p.Glu304Lys

Neuropathy and bilateral striatal necrosis

[12]

8

~ 4.5 kb incl. partial gene

Thiamine metabolism dysfunction syndrome 4

[5]

9

c.576G>C, p.Gln192His

Bilateral striatal necrosis with polyneuropathy

[13]