A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.
PMID 32844072 | PMCID PMC7441036 | DOI 10.5582/irdr.2020.03033 · Intractable & rare diseases research · 2020 · View on PubMed ↗
Alzheimer's disease (AD) is the most common cause of dementia with around 50 million people suffering from this disease worldwide. Mutations in the ATP-binding cassette sub-family A member 7 (ABCA7) have been reported to cause susceptibility to AD 9 (OMIM #608907). In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. Whole-exome sequencing identified the novel heterozygous variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene, which leads to an amino acid exchange. Furthermore, bioinformatics in silico programs predict a pathogenic effect for this variant. To the best of our knowledge, the variant has not been described in the literature so far as evidenced by a thorough literature review using multiple databases such as Ovid, Medline, EMBASE, ProQuest, Science Direct, Google Scholar, and PubMed. In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease. Given the reported function of this gene, it is most likely that it is etiological and pathological because of the presenting complex neurological disease due to decreased clearance of β-amyloid and α-Synuclein. We illustrate the importance of this interesting gene that could be implicated in several neurodegenerative disorders.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ABCA7 | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Jeddah | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9. In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease.” | 0.95 | saudi_context_rules_v1 |
| variant | c.3706C>T | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.95 | hgvs_regex_v1 |