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Korean J Pediatr 2011 June;54(6) :272-275.
doi:https://doi.org/10.3345/kjp.2011.54.6.272
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
Jung Sook Ha (Ha JS)1, Yeo Hyang Kim (Kim YH)2
1Departments of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea
2Departments of Pediatrics, Keimyung University School of Medicine, Daegu, Korea
Corresponding Author: Yeo Hyang Kim ,Tel: +82-53-250-7524, Fax: +82-53-250-7783, Email: kimyhped@hanmail.net
Copyright © 2011 by The Korean Pediatric Society
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).
Keywords: Aortic aneurysm | Thorax | TGF-beta type I receptor | TGF-beta type II receptor | Mutation
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