CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.
Articles on Mutation Database
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Novel Genetic Cause for Absence of Kidneys
Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the…
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Characterizing a Rare Disease Through a Global Effort
In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency…
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Recognition of CENTOGENE’s Scientific Expertise
Editorial board members in scientific journals are selected from the most-respected experts in the field, and the request to write an Editorial on a current topic of general interest is truly an honor. It was a pleasure for CENTOGENE’s Chief Genomic Officer Prof. Peter Bauer and his team to…
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Genetics and Pathophysiology of Premature Aging
Progeria, the phenomenon of premature aging, is an ultra-rare genetic condition. A recent study reported mutations in MTX2 as the cause of a novel progeroid syndrome and revealed mitochondrial dysfunction as contributing to the pathophysiology in progeria. The study, which utilized CENTOGNE’s…
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One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was…