Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ADA2 gene encodes an important regulatory enzyme that deaminates adenosine. Mutations cause autosomal recessive ADA2 deficiency and Sneddon syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Riazi MA et al. (2000) The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. |
| 2. |
Mascarenhas R et. al. () Familial Sneddon's syndrome. |
| 3. |
Zavialov AV et al. (2005) Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity. |
| 4. |
Zavialov AV et al. (2010) Structural basis for the growth factor activity of human adenosine deaminase ADA2. |
| 5. |
Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2. |
| 6. |
Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. |
| 7. |
Bras J et. al. (2014) Mutant ADA2 in vasculopathies. |
| 8. |
Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. |
| 9. |
None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. |
| 10. |
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
