Document Detail


A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
MedLine Citation:
PMID:  18084123     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.
Authors:
Yosuke Togashi; Hiroto Sakoda; Akira Nishimura; Naomichi Matsumoto; Hisatoyo Hiraoka; Yuji Matsuzawa
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-12-17
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  46     ISSN:  1349-7235     ISO Abbreviation:  Intern. Med.     Publication Date:  2007  
Date Detail:
Created Date:  2007-12-17     Completed Date:  2008-01-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1995-2000     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Sumitomo Hospital, Osaka. togashi-yousuke@sumitomo-hp.or.jp
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MeSH Terms
Descriptor/Qualifier:
Adult
Craniofacial Abnormalities / diagnosis,  genetics*
Diagnosis, Differential
Humans
Hypertelorism / diagnosis,  genetics*
Male
Marfan Syndrome / classification,  diagnosis,  genetics
Middle Aged
Mutation, Missense / genetics
Pedigree
Protein-Serine-Threonine Kinases / genetics*
Receptors, Transforming Growth Factor beta / genetics*
Syndrome
Uvula / abnormalities
Vascular Malformations / diagnosis,  genetics*
Chemical
Reg. No./Substance:
0/Receptors, Transforming Growth Factor beta; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.30/transforming growth factor-beta type II receptor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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