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Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

Authors: Yuste-Chaves, M  Canueto, J  Santos-Briz, A  Ciria, S  Gonzalez-Sarmiento, R  Unamuno, P 
Citation: Yuste-Chaves M, etal., Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.
Pubmed: (View Article at PubMed) PMID:20678097
DOI: Full-text: DOI:10.1111/j.1525-1470.2010.01206.x

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.


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CRRD Object Information
CRRD ID: 11553844
Created: 2016-10-14
Species: All species
Last Modified: 2016-10-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.