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• W2896435208 abstract "Aggregation of α-synuclein is a hallmark for several neurodegenerative diseases including Dementia with Lewy bodies (DLB), Parkinson's Disease (PD), and multiple systems atrophy. Here we report a family with a history of synucleinopathy. The index case (61 y/o, APOE3/4) developed DLB by the age of 59, while his father (APOE3/3) died of DLB at the age of 75 (age of onset at 70). Two controls (paternal aunts of the proband, both APOE3/3) remain cognitively healthy at ages 77 and 73, respectively. Given the extensive familial history, we undertook a search for putative, pathogenic variants driving the underlying synucleinopathy. Visual hallucinations and cognitive decline with prominent parkinsonism were documented for the index case at the Stanford Center for Memory Disorders. One of the aunts was confirmed to be a healthy control following a research-based clinical and neuropsychological evaluations. The other aunt underwent a phone interview with a clinical dementia rating of 0. DNA of living subjects were collected from saliva samples, while the father's DNA was brain derived. Whole exome sequencing (WES) was performed on the Illumina HiSeq2000 platform. Raw data were analyzed with BWA (read mapping) and GATK (variant calling) software packages. Variants present in father-son pair and not carried by the two healthy aunts were selected for further investigation. These filtered variants were screened against 4449 controls aged 80 and up (1802 males, 2647 females) from the Alzheimer's Disease Sequencing Project. Variants not found in any controls were annotated using the Ensembl Variant Effect Predictor toolkit. Two variants remained after the filtering process—a missense variant on ZNF679 (NM_153363.2, 4:p.Ser253Leu) and a missense variant on CTD-3214H19.16 (ENSP00000469811.1:p.Ala128Thr). The father-son pair are heterozygous for each variant. Presence of these two variants in the father-son pair, combined with their absence in the two family controls and nearly 4,500 controls suggest that they are candidate pathogenic variants underlying the synucleinopathy in this family. Additional analysis of this family is underway, with WES being performed on a third paternal aunt (age 75) to further validate our findings . Pedigree of the family with an extensive history of synucleinopathy. Subjects with known APOE status have whole exome sequencing data available and were included in the analysis. Two cases of PD and three cases of dementia were reported by family members for generation I. DLB subjects are heterozygous for both c.380G>A CTD-3214H19.16 and c.758C>T ZNF679. Filtering scheme used for the discovery of possible putative, pathogenic variants." @default.
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• W2896435208 date "2018-07-01" @default.
• W2896435208 modified "2023-10-16" @default.
• W2896435208 title "P1‐135: RARE MISSENSE VARIANTS ON <i>ZNF679</i> AND <i>CTD‐3214H19.16</i> SEGREGATE IN A FAMILY WITH A HISTORY OF SYNUCLEINOPATHY" @default.
• W2896435208 doi "https://doi.org/10.1016/j.jalz.2018.06.138" @default.
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