DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
| Autor: | Savige, J., Ars, E., Cotton, R. G. H., Crockett, D., Dagher, H., Constantinou-Deltas, Constantinos D., Ding, J., Flinter, F., Pont-Kingdon, G., Smaoui, N., Torra, R., Storey, H. |
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| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 2014 |
| Předmět: |
fibrocystin
Inherited renal disease Genetic testing genotype phenotype correlation COL4A5 gene Nephritis Hereditary osteogenesis imperfecta computer.software_genre urologic and male genital diseases human variome project nephritis genetic database genetic variability pathogenicity genetics gene mutation cell interaction Genetics Database medicine.diagnostic_test genetic screening bioinformatics Phenotype X chromosome linked disorder female genital diseases and pregnancy complications unclassified drug COL4A5 protein human priority journal Nephrology disease severity nucleic acid database focal glomerulosclerosis Databases Nucleic Acid Collagen Type IV DNA database congenital hereditary and neonatal diseases and abnormalities Gene variant phenotype Human Variome Project MEDLINE review Biology collagen type 4 medicine otorhinolaryngologic diseases genomics Humans stop codon human Alport syndrome gene missense mutation DNA medicine.disease amino acid sequence kidney failure collagen type 4A5 Pediatrics Perinatology and Child Health Leiden Open Variation Database X chromosome inactivation computer Reference genome |
| Zdroj: | Pediatric Nephrology Pediatr.Nephrol. |
| Popis: | X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual laboratories but are unpublished. The major genetic testing laboratories for X-linked Alport syndrome worldwide have established a Web-based database for published and unpublished COL4A5 variants ( https://grenada.lumc.nl/LOVD2/COL4A/home.php?select_db=COL4A5 ). This conforms with the recommendations of the Human Variome Project: it uses the Leiden Open Variation Database (LOVD) format, describes variants according to the human reference sequence with standardized nomenclature, indicates likely pathogenicity and associated clinical features, and credits the submitting laboratory. The database includes non-pathogenic and recurrent variants, and is linked to another COL4A5 mutation database and relevant bioinformatics sites. Access is free. Increasing the number of COL4A5 variants in the public domain helps patients, diagnostic laboratories, clinicians, and researchers. The database improves the accuracy and efficiency of genetic testing because its variants are already categorized for pathogenicity. The description of further COL4A5 variants and clinical associations will improve our ability to predict phenotype and our understanding of collagen IV biochemistry. The database for X-linked Alport syndrome represents a model for databases in other inherited renal diseases. |
| Databáze: | OpenAIRE |
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