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. We investigated LEMD3 in a two‐generation BOS family showing an extremel...

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Veröffentlicht in:	Clinical genetics 2009-06, Vol.75 (6), p.556-561
Hauptverfasser:	Zhang, Y, Castori, M, Ferranti, G, Paradisi, M, Wordsworth, BP
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Base Sequence Biological and medical sciences Bone and Bones - pathology Bone diseases Buschke-Ollendorff syndrome Child Connective Tissue Diseases - genetics Connective Tissue Diseases - pathology Diseases of the osteoarticular system DNA-Binding Proteins Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Germ-Line Mutation Humans LEMD3 Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences melorheostosis Melorheostosis - genetics Melorheostosis - pathology Membrane Proteins - genetics Molecular and cellular biology Molecular Sequence Data Mutation Nuclear Proteins - genetics osteopoikilosis Osteopoikilosis - genetics Osteopoikilosis - pathology Sequence Analysis, DNA Skin - pathology Syndrome variable expression
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