Melorheostosis
Return to Library
Research from Oxford University broadens understanding of melorheostosis genetics
2009 JUN 30 - (NewsRx.com) -- Investigators publish new data in the report 'Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.' "Mutations in the LEMD3 gene were recently incriminated in Buschke-Ollendorff syndrome (BOS) and osteopoikilosis, with or without melorheostosis. The relationship of this gene with isolated sporadic melorheostosis is less clear," scientists in Oxford, the United Kingdom report. "We investigated LEMD3 in a two-generation BOS family showing an extremely variable expression of the disease, in a sporadic patient with skin features of BOS, and in an additional subject with isolated melorheostosis. We identified two different mutations, both resulting in a premature stop codon, in the two cases of BOS. The mutation (c.2564G >A) reported in the familial case is novel, while that observed in the sporadic case (c.1963C >T) has been previously reported in an American woman with osteopoikilosis and melorheostosis who had a family history of isolated osteopoikilosis. The search for mutations in DNA extracted from the peripheral blood, as well as skin and bone biopsies of the patient with melorheostosis failed to identify any pathogenic change. Our results further expand the LEMD3 mutation repertoire, corroborate the extreme interfamilial and intrafamilial clinical variability of LEMD3 mutations, and underline the lack of a clear phenotype-genotype correlation in BOS. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis," wrote Y. Zhang and colleagues, Oxford University. The researchers concluded: "The genetic or epigenetic influences that are responsible for the development of melorheostosis require further investigation." Zhang and colleagues published their study in Clinical Genetics (Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clinical Genetics, 2009;75(6):556-61). For more information, contact Y. Zhang, Oxford University Institute of Musculoskeletal Sciences, Botnar Research Centre, Oxford, UK. Publisher contact information for the journal Clinical Genetics is: Blackwell Publishing Inc., 350 Main St., Malden, MA 02148, USA. Keywords: United Kingdom, Oxford, Melorheostosis Genetics, Genetics, Melorheostosis. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.
|
