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Table 4 Reported pathogenic mutations in the SLC52A3 gene

From: The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

A Reported pathogenic mutations in theSLC52A3 gene
Mutation Type Exon Coding effect Reference (first report)
c.49T>C Missense 2 p.Trp17Arg Bosch et al.[3]
c.62A>G Missense 2 p.Asn21Ser Dezfouli et al.[13]
c.82C>A Missense 2 p.Pro28Thr Johnson[20]
c.106G>A1 Missense 2 p.Glu36Lys Green et al.[4]
c.160G>A Missense 2 p.Gly54Arg Johnson[9]
c.173T>A Missense 2 p.Val58Asp Ciccolella et al.[6]
c.211G>A Missense 2 p.Glu71Lys Johnson.[20]
c.211G>T Nonsense 2 p.Glu71X Green et al.[4]
c.224T>C Missense 2 p.Ile75Thr Johnson[9]
c.394C>T Missense 2 p.Arg132Trp Green et al.[4]
c.568-19_-18insCTGATTGAC Insertion 2i Unknown Ciccolella et al.[6]
c.639C>G Nonsense 3 p.Tyr213X Green et al.[4]
c.659C>A Missense 3 p.Pro220His Dezfouli et al.[13]
c.670T>C Missense 3 p.Phe224Leu Green et al.[4]
c.796C>T Missense 3 p.Arg266Trp Ciccolella et al.[6]
c.935C>T Missense 3 p.Ala312Val Dezfouli et al.[13]
c.955C>T Missense 3 p.Pro319Ser Ciccolella et al.[6]
c.989G>T Missense 3 p.Gly330Val Koy et al.[7]
c.1048T>A Missense 3 p.Leu350Met Green et al.[4]
c.1325_1326delTG Deletion 5 p.Leu442ArgfsX64 Green et al.[4]
c.1198-2A>C Splice defect 4i Unknown Bosch et al.[3]
c.1371C>G Missense 5 p.Phe457Leu Green et al.[4]
c.1296C>A Nonsense 5 p.Cys432X Ciccolella et al.[6]
c.1237T>C1 Missense 5 p.Val413Ala Green et al.[4]
c.1238T>C Missense 5 p.Val413Ala Ciccolella et al.[6]
B Reported pathogenic mutations in the SLC52A2 gene
c.368T>C Missense   p.Leu123Pro Haack et al.[8]
c.419C>T2 Missense   p.Pro140Leu Johnson et al.[9]
c.916G>A2 Missense   p.Gly306Arg Johnson et al.[9]
c.1016T>C Nonsense   p.Leu339Pro Haack et al.[8]
  1. 1 c.106G>A and c.1237T>C are in cis. c.106G>A is predicted to be deleterious; c.1237T>C is predicted to be tolerated (Green et al.[4]).
  2. 2 c.419C>T is reported in cis with pathogenic mutation c.916G>A and is possibly non-pathogenic (Johnson et al.[9]).