title: Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.
abstract: The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.
authors.affiliation: Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain.
authors.forename: Manuela
authors.initials: M
authors.lastname: Yuste-Chaves
authors.forename: Javier
authors.initials: J
authors.lastname: Cañueto
authors.forename: Ángel
authors.initials: Á
authors.lastname: Santos-Briz
authors.forename: Sara
authors.initials: S
authors.lastname: Ciria
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
authors.forename: Pablo
authors.initials: P
authors.lastname: Unamuno
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins