SORL1 mutation in a Greek family with Parkinson's disease and dementia.
PMID 34506082 | PMCID PMC8528452 | DOI 10.1002/acn3.51433 · Annals of clinical and translational neurology · 2021
Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson's disease and Parkinson's disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for SORL1 mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SORL1 | “SORL1 mutation in a Greek family with Parkinson's disease and dementia.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson's disease and Parkinson's disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “SORL1 mutation in a Greek family with Parkinson's disease and dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.G379W | “We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family.” | 0.95 | hgvs_regex_v1 |
| variant | G1135T | “We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family.” | 0.82 | literature_variant_regex_v2 |