A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene / 소아과
Korean Journal of Pediatrics
;
: 272-275, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-31615
ABSTRACT
A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Aneurisma de la Aorta
/
Fenotipo
/
Arterias
/
Enfermedades Cutáneas Genéticas
/
Tórax
/
Úvula
/
Fisura del Paladar
/
Proteínas Serina-Treonina Quinasas
/
Receptores de Factores de Crecimiento Transformadores beta
/
Tejido Conectivo
Límite:
Niño
/
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2011
Tipo del documento:
Artículo
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