Korean J Pediatr.  2011 Jun;54(6):272-275. 10.3345/kjp.2011.54.6.272.

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene

• Ha JS
• Kim YH

• KMID: 2073643
• DOI: http://doi.org/10.3345/kjp.2011.54.6.272

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).

Keyword

Aortic aneurysm; Thorax; TGF-beta type I receptor; TGF-beta type II receptor; Mutation

MeSH Terms

Aneurysm
Aortic Aneurysm
Arteries
Child
Cleft Palate
Connective Tissue
Dilatation
Eye
Humans
Joint Instability
Loeys-Dietz Syndrome
Mutation, Missense
Phenotype
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta
Skin Diseases, Genetic
Thorax
Uvula
Vascular Malformations
Arteries
Joint Instability
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta
Skin Diseases, Genetic
Vascular Malformations