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Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm
Korean Journal of Radiology ; : 101-111, 2022.
Article in English | WPRIM | ID: wpr-918234
ABSTRACT
Objective@#Familial intracranial aneurysms (FIAs) are found in approximately 6%–20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. @*Materials and Methods@#Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. @*Results@#Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. @*Conclusion@#Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.
Full text: Available Index: WPRIM (Western Pacific) Language: English Journal: Korean Journal of Radiology Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: English Journal: Korean Journal of Radiology Year: 2022 Type: Article