Publications by authors named "S Chantot-Bastaraud"
Article Synopsis
- - Primary ciliary dyskinesia (PCD) is a rare condition linked to dysfunctional cilia, primarily affecting males, but the study investigates the effects of X chromosome inactivation (XCI) in their healthy mothers who carry the mutation.
- - The analysis of six mothers revealed varying degrees of respiratory symptoms that correlated with their XCI patterns and the presence of normal ciliated cells in their airways.
- - The findings suggest that identifying female carriers of PCD mutations is essential, especially if they have mild respiratory issues, and highlight that having a sufficient proportion of normal ciliated cells can prevent severe symptoms, indicating potential for gene therapy.
Article Synopsis
- The study focuses on inherited retinal degenerations (IRDs) that can lead to blindness, particularly investigating genetic variations in a North African cohort, which has been less studied compared to European and Asian populations.
- Researchers used advanced sequencing techniques and expression analyses on various cell types to identify a new gene defect in the UBAP1L gene in four cases of autosomal recessive IRD from Tunisia.
- Findings suggest that these biallelic UBAP1L variants play a significant role in IRDs, indicating a potential genetic prevalence in the North African population.
Eur J Med Genet
August 2023
Article Synopsis
- * Most variants of the SMARCC1 gene are loss of function (LoF) and typically passed down from unaffected parents, suggesting incomplete penetrance.
- * This research presents the first antenatal cases of SMARCC1 LoF variants found through Whole Genome Sequencing, highlighting the challenges in diagnosis and genetic counseling due to its inheritance patterns.
Neuromuscul Disord
May 2023
Article Synopsis
- Uniparental isodisomy is a genetic condition where both copies of a chromosome come from one parent, potentially leading to homozygosity for harmful variants.
- Limb-girdle muscular dystrophy R3 is an autosomal recessive disorder linked to mutations in the alpha-sarcoglycan gene (SGCA), with the first case of this type revealed through uniparental isodisomy.
- An 8-year-old patient with delayed motor milestones and muscle pain was found to have a homozygous variant in SGCA and a chromosomal microarray indicating his condition was due to paternal uniparental isodisomy.
Am J Med Genet A
February 2023
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
