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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.
AuthorsDaniel Gutierrez, Kevin D Cooper, Anna L Mitchell, Heather I Cohn
JournalPediatric dermatology (Pediatr Dermatol) Vol. 32 Issue 5 Pg. e219-20 ( 2015) ISSN: 1525-1470 [Electronic] United States
PMID26135202 (Publication Type: Case Reports, Journal Article)
Copyright© 2015 Wiley Periodicals, Inc.
Chemical References
  • DNA-Binding Proteins
  • LEMD3 protein, human
  • Membrane Proteins
  • Nuclear Proteins
  • RNA Splice Sites
Topics
  • Abnormalities, Multiple (diagnosis)
  • Adolescent
  • DNA-Binding Proteins
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Melorheostosis (diagnosis, genetics)
  • Membrane Proteins (genetics)
  • Mutation
  • Nuclear Proteins (genetics)
  • Osteopoikilosis (diagnosis, genetics)
  • Prognosis
  • RNA Splice Sites (genetics)
  • Rare Diseases
  • Skin Diseases, Genetic (diagnosis, genetics)

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