New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13
| العنوان: | New Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 13 |
|---|---|
| المؤلفون: | Chaim Yosefy, Charles Simpson, Susan A. Slaugenhaupt, Francesca Nesta, Robert A. Levine, Jane E. Marshall, Daisy Dai, Maire Leyne, Judy Hung |
| المصدر: | Circulation. 112:2022-2030 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Genetic Linkage, Locus (genetics), Sudden death, Genetic Heterogeneity, Genetic linkage, Physiology (medical), Internal medicine, Mitral valve, medicine, Humans, Mitral valve prolapse, Aged, Genes, Dominant, Chromosome 13, Mitral regurgitation, Mitral Valve Prolapse, Chromosomes, Human, Pair 13, business.industry, Genetic heterogeneity, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, medicine.anatomical_structure, Echocardiography, Cardiology, Female, Lod Score, Cardiology and Cardiovascular Medicine, business |
| الوصف: | Background— Mitral valve prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. To date, 2 MVP loci have been described, but the defective genes have yet to be discovered. In the present study, we analyzed a large family segregating MVP, and identified a new locus, MMVP3 . This study and others have enabled us to explore mitral valve morphological variations of currently uncertain clinical significance. Methods and Results— Echocardiograms and blood samples were obtained from 43 individuals who were classified by the extent and pattern of displacement. Genotypic analyses were performed with polymorphic microsatellite markers. Evidence of linkage was obtained on chromosome 13q31.3-q32.1, with a peak nonparametric linkage score of 18.41 ( P D13S132 . Of the 6 related individuals with mitral valve morphologies not meeting diagnostic criteria but resembling fully developed forms, 5 carried all or part of the haplotype linked to MVP. Conclusions— The mapping of a new MVP locus to chromosome 13 confirms the observed genetic heterogeneity and represents an important step toward gene identification. Furthermore, the genetic analysis provides clinical lessons with regard to previously nondiagnostic morphologies. In the familial context, these may represent early expression in gene carriers. Early recognition of gene carriers could potentially enhance the clinical evaluation of patients at risk of full expression, with the ultimate aim of developing interventions to reduce progression. |
| تدمد: | 1524-4539 0009-7322 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61d08b9d24b2081ef747467d004d16fTest https://doi.org/10.1161/circulationaha.104.516930Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f61d08b9d24b2081ef747467d004d16f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15244539 00097322 |
|---|