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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]