European Journal of Human Genetics - Clinical utility gene card for: osteogenesis imperfecta

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European Journal of Human Genetics - Clinical utility gene card for: osteogenesis imperfecta

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 26 September 2012; doi: 10.1038/ejhg.2012.210

Clinical utility gene card for: osteogenesis imperfecta

Fleur S van Dijk¹, Raymond Dalgleish², Fransiska Malfait³, Alessandra Maugeri¹, Agnieszka Rusinska⁴, Oliver Semler⁵, Sofie Symoens³ and Gerard Pals¹

1. ¹Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands
2. ²Department of Genetics, University of Leicester, Leicester, UK
3. ³Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
4. ⁴Department of Paediatric Propedeutics and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland
5. ⁵Children’s Hospital, University of Cologne, Cologne, Germany

Correspondence: Dr FS van Dijk, Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, MB 1007, The Netherlands. Tel: +1 31 20 440150; Fax: +1 31 20 4440769; E-mail: fs.vandijk2@vumc.nl or cct@vumc.nl

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Osteogenesis imperfecta (OI). OI types I-V.^{1, 2, 3} OI types VI-XII.⁴

1.2 OMIM# of the disease

#166200 (type I), #166210 (type II), #259420 (type III), #166220 (type IV), %610967 (type V), #613982 (type VI), #610682 (type VII), #610915 (type VIII), #259440 (type IX), #613848 (type X), #610968 (type XI), #613849 (type XII).

1.3 Name of the analysed genes or DNA/chromosome segments