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1 records shown · first 60T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.
PMID 17030667 | DOI 10.1001/archneur.63.10.1483 · Archives of neurology · 2006 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | T313M | “T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.” | 0.82 | literature_variant_regex_v2 |
| gene | PINK1 | “T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Almost nothing is known about the genetics of PD in Saudi Arabia; however, consanguineous families, not infrequent in this population, could be important in the evaluation of known PD genes and the search for new PD factors in the future. OBJECTIVE: To investigate known recessive PD genes in 5 consanguineous Saudi families with PD. DESIGN: The entire open frame as well as the untranslated region and all 5' and 3' intron-exon boundaries of the PINK1, parkin, and DJ-1 genes were sequenced in 5 probands in Saudi families. However, in a large Saudi family with PD with at least 3 consanguineous marriages between first cousins, we detected a threonine to methionine substitution at codon 313 (T313M) PINK1 mutation that affected the kinase domain. CONCLUSION: A homozygous T313M mutation is responsible for PD in this large Saudi family.” | 0.95 | saudi_context_rules_v1 |