Leigh syndrome
OMIM:256000Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | NDUFAF5 |
|---|---|
| Reference transcript | NM_024120.4 |
| DNA Change | c.477A>C |
| A.A. Change | p.Leu159Phe |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ.Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet. 2010 Aug;47(8):507-12. |
| Gene Symbol | SLC19A3 |
|---|---|
| Reference transcript | NM_025243.3 |
| DNA Change | c.20C>A |
| A.A. Change | p.Ser7X |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Feb 18. [Epub ahead of print] |