Literature record
C19orf12 mutation leads to a pallido-pyramidal syndrome.
PMID 24361204 | PMCID PMC4422067 | DOI 10.1016/j.gene.2013.11.039 · Gene · 2014
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | C19orf12 | “C19orf12 mutation leads to a pallido-pyramidal syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | FBXO7 | “Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.” | 0.98 | hgnc_dict_v1 |
| gene | ATP13A2 | “Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.” | 0.98 | hgnc_dict_v1 |
| gene | PLA2G6 | “Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.” | 0.98 | hgnc_dict_v1 |
| gene | PRKN | “Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.” | 0.98 | hgnc_dict_v1 |
| gene | SPG11 | “Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12.” | 0.95 | saudi_context_rules_v1 |
| variant | p.G53R | “Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12.” | 0.95 | hgvs_regex_v1 |