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

P Y Billie Au, Hilary E Racher, John M Graham, Nancy Kramer, R Brian Lowry, Jillian S Parboosingh, A Micheil Innes

Journal: American journal of medical genetics. Part A 2014;164A(3):676-84

PMID: 24357594

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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.

Address: Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Alberta, Canada.

DOI: 10.1002/ajmg.a.36340

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MeSH Terms: Arachnodactyly, Brain, Child, Preschool, Craniosynostoses, DNA-Binding Proteins, Exons, Facies, Female, Humans, Magnetic Resonance Imaging, Marfan Syndrome, Mutation, Missense, Phenotype, Proto-Oncogene Proteins, Spinal Cord, Tomography, X-Ray Computed