A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
| Autor: | Brittany M Wenger, Bruce D. Gelb, Douglas R. Stewart, Marco Tartaglia, Julie De Backer, Ron Do, Laura Muiño-Mosquera, Nihir Patel, Madeline Lui, Arden Moscati, Amy R Kontorovich |
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| Rok vydání: | 2021 |
| Předmět: |
Marfan syndrome
medicine.medical_specialty Genotype Fibrillin-1 Population RASopathy Short stature Article Marfan Syndrome Internal medicine Exome Sequencing medicine Humans Precision Medicine education Ectopia lentis Genetics (clinical) Exome sequencing Mendelian disorders education.field_of_study business.industry Genotype-Phenotype Correlations Genotype-first approach medicine.disease United Kingdom Cardiovascular system Phenotype Mutation Noonan syndrome medicine.symptom business |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-020-00973-2 |
| Popis: | PURPOSE The purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data. METHODS This study uses exome sequencing and corresponding phenotypic data from Mount Sinai's BioMe (n = 32,344) and the United Kingdom Biobank (UKBB; n = 49,960). Variant curation identified pathogenic/likely pathogenic (P/LP) variants in RASopathy genes and FBN1. RESULTS Twenty-one subjects harbored P/LP RASopathy variants; three (14%) were diagnosed, and another 46% had ≥1 classic Noonan syndrome (NS) feature. Major NS features (short stature [9.5% p = 7e-5] and heart anomalies [19%, p |
| Databáze: | OpenAIRE |
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