Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
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.
van Steensel
Maurice A M
MA
Department of Dermatology, University of Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl
van Geel
Michel
M
Parren
Lizelotte J M T
LJ
Schrander-Stumpel
Constance T R M
CT
Marcus-Soekarman
Dominique
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II