The Marfan syndrome genetics
<p><strong>Background:</strong> The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndr...
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| Format: | Article |
| Language: | English |
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Slovenian Medical Association
2005-05-01
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| Series: | Zdravniški Vestnik |
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| Online Access: | http://vestnik.szd.si/index.php/ZdravVest/article/view/2115 |
| _version_ | 1818507440832905216 |
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| author | Galina Pungerčič |
| author_facet | Galina Pungerčič |
| author_sort | Galina Pungerčič |
| collection | DOAJ |
| description | <p><strong>Background:</strong> The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection) are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.</p><p><strong>Conclusions:</strong> Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.</p> |
| first_indexed | 2024-12-10T22:18:26Z |
| format | Article |
| id | doaj.art-6171ec75dc3145d49a80bc4f462e8c4d |
| institution | Directory Open Access Journal |
| issn | 1318-0347 1581-0224 |
| language | English |
| last_indexed | 2024-12-10T22:18:26Z |
| publishDate | 2005-05-01 |
| publisher | Slovenian Medical Association |
| record_format | Article |
| series | Zdravniški Vestnik |
| spelling | doaj.art-6171ec75dc3145d49a80bc4f462e8c4d2022-12-22T01:31:24ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242005-05-017451611The Marfan syndrome geneticsGalina Pungerčič<p><strong>Background:</strong> The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection) are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.</p><p><strong>Conclusions:</strong> Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.</p>http://vestnik.szd.si/index.php/ZdravVest/article/view/2115Marfan syndromefibrillin-1connective tissuemutationsheritable disorder |
| spellingShingle | Galina Pungerčič The Marfan syndrome genetics Zdravniški Vestnik Marfan syndrome fibrillin-1 connective tissue mutations heritable disorder |
| title | The Marfan syndrome genetics |
| title_full | The Marfan syndrome genetics |
| title_fullStr | The Marfan syndrome genetics |
| title_full_unstemmed | The Marfan syndrome genetics |
| title_short | The Marfan syndrome genetics |
| title_sort | marfan syndrome genetics |
| topic | Marfan syndrome fibrillin-1 connective tissue mutations heritable disorder |
| url | http://vestnik.szd.si/index.php/ZdravVest/article/view/2115 |
| work_keys_str_mv | AT galinapungercic themarfansyndromegenetics AT galinapungercic marfansyndromegenetics |