Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
Joint Authors
Atwal, Paldeep S.
Zimmermann, Michael T.
Urrutia, Raul A.
Blackburn, Patrick R.
Cousin, Margot A.
Boczek, Nicole J.
Klee, Eric W.
Macmurdo, Colleen
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-01-09
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings.
We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS.
The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit.
Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c.1061T>C, p.(L354P).
Molecular modeling reveals alteration of local protein structure as a result of this pathogenic variant.
This pathogenic variant has not been previously reported in LDS and thus expands the pathogenic variant spectrum of this condition.
American Psychological Association (APA)
Zimmermann, Michael T.& Urrutia, Raul A.& Blackburn, Patrick R.& Cousin, Margot A.& Boczek, Nicole J.& Klee, Eric W.…[et al.]. 2017. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145368
Modern Language Association (MLA)
Zimmermann, Michael T.…[et al.]. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case Reports in Genetics No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1145368
American Medical Association (AMA)
Zimmermann, Michael T.& Urrutia, Raul A.& Blackburn, Patrick R.& Cousin, Margot A.& Boczek, Nicole J.& Klee, Eric W.…[et al.]. Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145368
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145368