title: Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.
abstract: Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
authors.affiliation: School of Medicine, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio.
authors.forename: Daniel
authors.initials: D
authors.lastname: Gutierrez
authors.affiliation: Department of Dermatology, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio.
authors.forename: Kevin D
authors.initials: KD
authors.lastname: Cooper
authors.affiliation: Department of Genetics and Genome Sciences, Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio.
authors.forename: Anna L
authors.initials: AL
authors.lastname: Mitchell
authors.affiliation: Department of Dermatology, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio.
authors.forename: Heather I
authors.initials: HI
authors.lastname: Cohn
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D004268:DNA-Binding Proteins; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008557:Melorheostosis / Q000175:diagnosis / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D022821:RNA Splice Sites / Q000235:genetics; D035583:Rare Diseases; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins; D022821:RNA Splice Sites