Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5,...

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Veröffentlicht in:	Nature genetics 2011-02, Vol.43 (2), p.132-137
Hauptverfasser:	Superti-Furga, Andrea, Lausch, Ekkehart, Janecke, Andreas, Bros, Matthias, Trojandt, Stefanie, Alanay, Yasemin, De Laet, Corinne, Hübner, Christian A, Meinecke, Peter, Nishimura, Gen, Matsuo, Mari, Hirano, Yoshiko, Tenoutasse, Sylvie, Kiss, Andrea, Machado Rosa, Rafael Fabiano, Unger, Sharon L, Renella, Raffaele, Bonafé, Luisa, Spranger, Jürgen, Unger, Sheila, Zabel, Bernhard
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid Phosphatase - deficiency Acid Phosphatase - genetics Agriculture Animal Genetics and Genomics Autoimmune Diseases - enzymology Autoimmune Diseases - genetics Autoimmunity Biological and medical sciences Biomedical and Life Sciences Biomedicine Bone and Bones - diagnostic imaging Bone density Bone diseases Bone Diseases, Developmental - metabolism Brain - metabolism Calcium - chemistry Cancer Research Child Dysplasia Fundamental and applied biological sciences. Psychology Gene Function Genetic aspects Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Homozygote Human Genetics Humans Isoenzymes - deficiency Isoenzymes - genetics letter Lymphocytes Male Mutation Osteochondrodysplasias - enzymology Osteochondrodysplasias - genetics Osteopontin - metabolism Pathogenesis Phosphatases Phosphorylation Physiological aspects Radiography Rheumatoid arthritis Risk factors Studies Tartrate-Resistant Acid Phosphatase
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