Publications by authors named "S Sigaudy"
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.
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- Osteoporosis is a skeletal disorder leading to increased fracture risk, and when it affects young individuals, it often indicates genetic causes related to early-onset osteoporosis (EOOP).
- Over 577 patients with primary osteoporosis were studied using next-generation sequencing of 21 bone fragility-related genes, revealing that around 18% had a genetic basis, primarily linked to the LRP5 gene.
- A rare finding included 17 patients with a variant in the PLS3 gene, suggesting the involvement of dominant X-linked osteoporosis, predominantly affecting males, but also identified severe cases in females, pointing toward possible genetic interactions.
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
Article Synopsis
- - TOKAS (Tonne-Kalscheuer syndrome) is a rare genetic disorder linked to multiple congenital anomalies, predominantly affecting males, and only 7 prenatal cases were previously documented among 41 patients.
- - A study identified 11 new cases from 6 French families through collaboration, revealing common features like diaphragmatic hernia, sex development differences, and various malformations, along with previously unreported conditions.
- - This research marks the first comprehensive fetal cohort for TOKAS, enhancing understanding of its clinical traits and genetic variants, with a significant recurrence of a specific genetic mutation noted in many cases.
Article Synopsis
- The study aimed to clarify the dermatological features of Costello syndrome (CS) and distinguish them from other similar syndromes like cardiofaciocutaneous syndrome (CFCS) and types of Noonan syndrome (NS).
- A ten-year multi-center study involving 31 patients found common skin and hair anomalies in CS, such as excessive eyebrows and various types of skin growths, which can help differentiate CS from CFCS and NS.
- The findings propose multiple melanocytic naevi as a potential marker for a milder form of CS and suggest that acitretin could be beneficial for treating certain skin conditions, although no clear genotype-phenotype link was identified.