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Shprintzen‐Goldberg syndrome associated with a novel missense mutation in TGFBR2
Author(s) -
Van Steensel Maurice A.M.,
Van Geel Michel,
Parren Lizelotte J.M.T.,
SchranderStumpel Constance T.R.M.,
MarcusSoekarman Dominique
Publication year - 2008
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2007.00648.x
Subject(s) - missense mutation , mutation , genetics , medicine , biology , gene
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‐β signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.