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Observation
July 2016

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome

Author Affiliations
  • 1Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany
  • 2Department of Human Genetics, University of Leipzig, Leipzig, Germany
  • 3Department of Human Genetics, University of Freiburg, Freiburg, Germany
JAMA Dermatol. 2016;152(7):844-845. doi:10.1001/jamadermatol.2016.0350

Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disease characterized by the variable occurrence of skin lesions (connective tissue nevi such as collagenomas or elastomas) and/or bone abnormalities known as osteopoikilosis. The underlying heterozygous loss-of-function mutation in the LEM domain-containing protein 3 gene (LEMD3) was identified in 2004.1 An integral protein of the inner nuclear membrane, LEMD3 antagonizes transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling.1,2 Loss of LEMD3 expression leads to increased connective tissue and elastin production by fibroblasts via enhanced TGF-β and BMP signaling, thereby producing the characteristic clinical phenotype.3

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