Publications by authors named "F Devillard"
Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.
Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges.
Article Synopsis
- Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
- A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
- The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
Article Synopsis
- * The report details a case of a 5-year-old boy with a deletion mutation in the KCNQ2 gene, diagnosed with seizures, autism, and intellectual deficiency linked to KCNQ2-encephalopathy.
- * The findings emphasize the need for genetic counseling and psychiatric evaluation to better manage the complex social and behavioral aspects of these conditions.
Article Synopsis
- Loss of function variants in CACNA1A are linked to various neurological disorders, such as episodic ataxia and developmental delays, with splicing defects being a key contributor.
- Researchers studied 11 variants of unknown significance in patients with ataxia, finding abnormal transcripts in 10 cases, eight of which were deemed harmful.
- The study confirmed the effectiveness of RNA sequencing over traditional methods, solidifying nine novel CACNA1A variants as pathogenic while suggesting flexibility in laboratory methods based on available resources.
Article Synopsis
- Reciprocal translocation (RT) carriers have a higher risk of infertility, miscarriages, and children with health issues due to the production of unbalanced gametes.
- Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) can help minimize these risks, but there are concerns about the effectiveness of sperm fluorescence in situ hybridization (spermFISH) as a diagnostic tool for RT carriers.
- A study of 41 RT carriers indicated that acrocentric chromosomes lead to more unbalanced gametes, and the variability in balanced sperm rates suggests that using spermFISH routinely may not be beneficial for these patients.