z-logo
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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here