OMIM: 256000Inheritance: Multiple
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SLC19A3 |
|---|
| Dna Change: | c.20C>A |
|---|
| Protein Change: | p.Ser7X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 2 |
|---|
| Transcript: | NM_025243.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Morocco | NA | Northern (the province Al Hoceima) | 3 patients/3 families | 1250-1750 years ago | Gerards M et al., 2013Gerards 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; 136(0):882-90 |
References
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; 136(0):882-90