Premium
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke–Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis
Author(s) -
Gutierrez Daniel,
Cooper Kevin D.,
Mitchell Anna L.,
Cohn Heather I.
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12634
Subject(s) - medicine , dermatology , dysplasia , splice site mutation , connective tissue disorder , osteochondrodysplasia , pathology , exon , genetics , biology , alternative splicing , gene
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 LEMD 3 splice site mutation ( IVS 12 + 1delG) in a 13‐year‐old boy with Buschke–Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.