What is the gene defect in Buschke-Ollendorf syndrome?

Recent studies suggest that many but not all patients have a heterozygous, loss-of-function, germline mutation in the LEMD3 gene on chromosome 12q that encodes for a an inner nuclear membrane called LEMD3 or MAN1. The absence of this mutation in some families suggests that there is genetic heterogeneity and further work needs to be done to clarify the genetics of this disorder.

Yadegari M, Whyte MP, Mumm S, et al: Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family, Arch Dermatol 146:63–68, 2010.