Document Detail

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
MedLine Citation:
PMID:  21949523     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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).
Jung Sook Ha; Yeo Hyang Kim
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Publication Detail:
Type:  Journal Article     Date:  2011-06-30
Journal Detail:
Title:  Korean journal of pediatrics     Volume:  54     ISSN:  2092-7258     ISO Abbreviation:  Korean J Pediatr     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-09-28     Completed Date:  2011-11-10     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101215374     Medline TA:  Korean J Pediatr     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  272-5     Citation Subset:  -    
Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.
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