Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke–Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. Issue 5 (2nd July 2015)

• Record Type: Journal Article
• Authors: Gutierrez, Daniel; Cooper, Kevin D.; Mitchell, Anna L.; Cohn, Heather I.
• Is Part Of: Pediatric dermatology. Volume 32:Issue 5(2015)
• Page Start: e219
• Page End: e220
• Publication Date: 2015-07-02
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12634
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12634-abs-0001"> <title>Abstract</title> <p>Buschke–Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in <italic>LEMD3</italic>, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel <italic>LEMD3</italic> splice site mutation (IVS12 + 1delG) in a 13‐year‐old boy with Buschke–Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.</p> </abstract>