Publications by authors named "Ardouin O"
Article Synopsis
- The research links the TUBA4A gene to familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), identifying pathogenic variants in patients with these conditions.* -
- A study of 448 patients with cerebellar ataxia revealed ultra-rare, likely harmful TUBA4A variants not found in public databases, indicating a potential genetic cause for this condition.* -
- Analysis showed a significant presence of TUBA4A mutations in inherited ataxia cases compared to controls, with experiments on patient-derived fibroblasts revealing disruptions in microtubule organization linked to the mutations.*
Article Synopsis
- The shift from targeted to exome or genome sequencing in clinical settings needs quality standards similar to those used in targeted sequencing, but there aren’t established guidelines for how to assess this change.
- A new structured evaluation method was created using specific metrics to assess exome sequencing performance against targeted methods, focusing on quality metrics and coverage of key gene panels.
- In testing three exome kits against a targeted myopathy sequencing method, it was found that despite all kits providing sufficient diagnostic data, there were notable differences in coverage and PCR duplicates, highlighting the need for quality assurance in clinical implementations.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late-onset ataxia.
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- - This study focused on 15 infants under a year old in intensive care who were suspected to have genetic conditions and underwent rapid trio exome sequencing (rES) from April 2019 to April 2021.
- - The key finding was that results from rES were available to parents within 16 days for 86% of the participants, and 40% received a confirmed diagnosis.
- - The study highlights the potential of rES to enhance medical care for critically ill infants, despite some patients not receiving a diagnosis and a few passing away before results were available.
Article Synopsis
- MobiDetails is an online tool designed for interpreting DNA variants, consolidating diverse data sources like population genetics and curated databases for molecular diagnostics.
- It allows real-time submission and annotation of DNA variants for over 18,000 human genes, emphasizing the growing importance of accurate genetic interpretation in patient care and personalized medicine.
- Accessible via mobile devices and tablets, MobiDetails is free for academic use and prioritizes public resources without containing specific patient data.
The gene underlying X chromosome-linked Kallmann syndrome, KAL-1, has been identified for several years, yet its role in development is still poorly understood. In order to take advantage of the zebrafish as a model in developmental genetics, we isolated the two KAL-1 orthologues, kal1.1 and kal1.
View Article and Find Full Text PDFThe KAL gene is responsible for the X-chromosome linked form of Kallmann's syndrome in humans. Upon transfection of CHO cells with a human KAL cDNA, the corresponding encoded protein, KALc, was produced. This protein is N-glycosylated, secreted in the cell culture medium, and is localized at the cell surface.
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