Publications by authors named "C Rouzier"
Article Synopsis
- A study compared the ABC and ACMG variant classification systems using 10 challenging cases, involving 43 European clinical laboratories, to determine how each system influences variant reporting and clinical utility.
- Although the ACMG system is primarily for assessing pathogenicity rather than reporting, it still affects reporting in many labs, leading to some noted differences in how variants are classified and communicated.
- The comparison revealed that ABC-based classifications tend to be clearer and more adaptable to clinical questions, allowing for more context-appropriate reporting of variants, unlike ACMG which can mislabel variants in certain clinical scenarios.
Autosomal recessive pathogenetic variants in the gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death. This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients.
View Article and Find Full Text PDFObjective: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear-encoded genes.
Methods: Over 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patients, comprising 294 children and 103 adults, carrying pathogenic or likely pathogenic variants in nuclear-encoded genes.
Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have a non-mitochondrial disorder. Thus, only the identification of the causative pathogenic variant can confirm the diagnosis.
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