European Journal of Human Genetics - Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012

full-text:
European Journal of Human Genetics - Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012

Clinical Utility Gene Card Update

European Journal of Human Genetics advance online publication 15 August 2012; doi: 10.1038/ejhg.2012.162

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

Karin Mayer¹, Ingo Kennerknecht² and Beat Steinmann³

1. ¹Molecular Genetics, Center for Human Genetics and Laboratory Medicine Dr. Klein & Dr. Rost, Martinsried, Germany
2. ²Institute of Human Genetics, University of Münster, Münster, Germany
3. ³Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland

Correspondence: Dr K Mayer, Molecular Genetics, Center for Human Genetics and Laboratory Medicine Dr. Klein & Dr. Rost, Lochhamer Street 29, Martinsried D-82152, Germany. Tel: +49 89 8955 780; Fax: +49 89 895578 780; E-mail: karin.mayer@medizinische-genetik.de

Update to: European Journal of Human Genetics (2009) 18, 1069; doi:10.1038/ejhg.2009.227; published online 2 February 2010

Top of page

1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Ehlers–Danlos syndrome (EDS) types I/II, III, IV, VI, VIIA/B, and VIIC¹; or according to the Villefranche nosology²: classical type (EDS I and II), hypermobile type (EDS III), vascular type (EDS IV), kyphoscoliotic types (EDS VIA and VIB), arthrochalasic types (EDS VIIA and EDS VIIB), dermatosparactic type (EDS VIIC), unspecified types, and variants.^{3, 4, 5, 6, 7, 8, 9, 10, 11, 12}

1.2 OMIM# of the disease

130000, 130010, 130020, 606408, 130050, 225400, 229200, 614170, 601776, 614557, 130060, 225410, 225320, 612350, 130070.

1.3 Name of the analysed genes or DNA/chromosome segments

COL5A1, COL5A2, TNXB, COL3A1, PLOD1, ZNF469, PRDM5, CHST14, FKBP14, COL1A1, COL1A2, ADAMTS2, SLC39A13, B4GALT7