This website provides information on patients with causal variants in the SHOX2 gene, including clinical data, molecular data, management and research options. Coding and non-coding variants in the SHOX2 gene have been found in conduction-related heart diseases such as atrial fibrillation and sinus node dysfunction. Not all individuals with a variant in the SHOX2 gene have these features. Moreover, SHOX2 DNA methylation is a biomarker for detecting the presence of malignant lung disease in patients with lung cancer as well as other cancers. SHOX2 hypermethylation correlates with clinical disease burden across a variety of cancer types and has the potential for monitoring treatment response in cancer patients. This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment options for patients with causal variants in the SHOX2 gene.
Gudrun A. Rappold, PhD, University Hospital Heidelberg, Institute of Human Genetics, Department of Human Molecular Genetics, Heidelberg, Germany, Gudrun.Rappold@med.uni-heidelberg.de
Sandra Hoffmann, PhD, University Hospital Heidelberg, Institute of Human Genetics, Department of Human Molecular Genetics, Heidelberg, Germany, Sandra.Hoffmann@med.uni-heidelberg.de