Whole-Exome Sequencing in Familial Parkinson Disease
نویسندگان
چکیده
منابع مشابه
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
OBJECTIVE Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases. METHODS In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exom...
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AIMS Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF. METHODS AND RESULTS WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare variants by mu...
متن کاملWhole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
متن کاملGenetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients...
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BACKGROUND Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal of this study was to determine whether a whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families. METHODS AND RESULTS WES was performed on 9 kindreds with familial ...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2016
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2015.3266