De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review

American Journal of Medical Genetics. Part a
P Y Billie AuFORGE Canada Consortium

Abstract

Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. Mutations in exon 1 of SKI have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen-Goldberg syndrome. SKI is a known regulator of TGFβ signaling. Therefore, like Marfan syndrome and Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.

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Citations

Apr 17, 2014·European Journal of Human Genetics : EJHG·Dorien SchepersLut Van Laer
Nov 26, 2015·European Journal of Medical Genetics·Elyssa CannaertsBart Loeys
Mar 19, 2019·American Journal of Medical Genetics. Part a·Ling ZhangJiangang Shi
Jan 26, 2020·Human Genetics·Pauline ArnaudLaurence Faivre
Jan 23, 2021·Revista Española De Cardiología·Juan Pablo Trujillo-QuinteroRoberto Barriales-Villa

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