Loading...
Publication
Síndrome de Marfan
| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| PPG_20167 | 1.74 MB | Adobe PDF |
Authors
Advisor(s)
Abstract(s)
A Síndrome de Marfan (SDM) é a mais comum das doenças genéticas do tecido
conjuntivo, de caráter hereditário e com herança autossómica dominante, que se
manifesta nos sistemas músculo-esquelético, cardiovascular e ocular e com alto grau
de variabilidade clínica.
É causada por mutações no gene codificante da fibrilina-1 (FBN1), uma glicoproteína
ligante de cálcio localizada no cromossoma 15 (15q21.1). Esta proteína é o principal
componente da matriz extracelular.
Até ao momento já foram reportadas mais de 500 mutações do gene FBN1, em que a
mais comum é uma mutação missense, que conduz à síntese de uma fibrilina
defeituosa com capacidade de formar polímeros.
O diagnóstico baseia-se num conjunto de critérios, denominados critérios de Ghent, e
é muito importante juntamente com o aconselhamento genético, já que 75% dos
indivíduos portadores da síndrome apresentam um dos progenitores afetados.
Marfan syndrome is the most common autosomal dominant inherited genetic disorder of the connective tissue, manifested in the musculoskeletal, cardiovascular and ocular systems and with a high degree of clinical variability. It is caused by mutations in the fibrillin-1 coding (FBN1) gene, a calcium-binding glycoprotein located on chromosome 15 (15q21.1). This protein is the major component of the extracellular matrix (ECM). To date, more than 500 mutations on the FBN1 gene have been reported, and the most common is a missense mutation, that leads to the synthesis of a defective fibrillin with the ability to form polymers. The diagnosis is based on a set of criteria, called Ghent criteria, and is very important along with genetic counseling, since 75% of individuals affected by the syndrome have one affected progenitor.
Marfan syndrome is the most common autosomal dominant inherited genetic disorder of the connective tissue, manifested in the musculoskeletal, cardiovascular and ocular systems and with a high degree of clinical variability. It is caused by mutations in the fibrillin-1 coding (FBN1) gene, a calcium-binding glycoprotein located on chromosome 15 (15q21.1). This protein is the major component of the extracellular matrix (ECM). To date, more than 500 mutations on the FBN1 gene have been reported, and the most common is a missense mutation, that leads to the synthesis of a defective fibrillin with the ability to form polymers. The diagnosis is based on a set of criteria, called Ghent criteria, and is very important along with genetic counseling, since 75% of individuals affected by the syndrome have one affected progenitor.
Description
Keywords
Síndrome de Marfan Fisiopatologia Mutações Fibrilina-1 Tecido conjuntivo Médico dentista Marfan syndrome Pathophysiology Mutations Fibrillin-1 Connective tissue Dentist