Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

Abstract

Shprintzen-Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan-like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS from similar disorders, such as Furlong, Marfan type II, Camurati-Engelmann and Loeys-Dietz syndromes. It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.

• Authors: Maurice A M van Steensel, Michel van Geel, Lizelotte J M T Parren, Constance T R M Schrander-Stumpel, Dominique Marcus-Soekarman
• Journal: Experimental dermatology (Exp Dermatol) Vol. 17 Issue 4 Pg. 362-5 (Apr 2008) ISSN: 1600-0625 [Electronic] Denmark
• PMID: 17979970 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptors, Transforming Growth Factor beta
• Protein Serine-Threonine Kinases
• Receptor, Transforming Growth Factor-beta Type I
• Receptor, Transforming Growth Factor-beta Type II

Topics

• Abnormalities, Multiple (genetics)
• Child
• Craniosynostoses (genetics)
• DNA Mutational Analysis
• Heart Defects, Congenital (genetics)
• Humans
• Intellectual Disability (genetics)
• Male
• Musculoskeletal Abnormalities (genetics)
• Mutation, Missense
• Polymerase Chain Reaction
• Protein Serine-Threonine Kinases (genetics)
• Receptor, Transforming Growth Factor-beta Type I
• Receptor, Transforming Growth Factor-beta Type II
• Receptors, Transforming Growth Factor beta (genetics)
• Syndrome