Molecular pathology of Shprintzen–Goldberg syndrome

Abstract

Editor's Note In the following paper the authors report on two patients with Shprintzen-Goldberg syndrome (SGS): one with an FBN1 mutation and the other having a disease-causing mutation of TGFRB2. The observation of these two patients with mutations of different genes and the documentation of other patients without mutations of either gene suggest that SGS is causally heterogeneous. This paper was presented as a poster at the 2005 meeting of the American Society of Human Genetics in Salt Lake City. A lively and productive discussion surrounding this paper occurred among several attendees at the poster: there was consensus that Patient 1 did indeed have SGS and represented only the second patient with a documented FBN1 mutation; because of the arterial manifestations in Patient 2, some felt that the phenotype best fit the Loeys-Dietz syndrome (LDS). Based on their findings, the authors suggest that SGS and LDS may be “the same disease entity.” Future work on the definition and delineation of both conditions will likely sort out these issues. John C. Carey Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.