Publications by authors named "P Letard"
Article Synopsis
- 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
- Exome sequencing is highlighted as a valuable resource in both prenatal and postnatal genetics, particularly for finding new candidate genes essential to human development.
- The study discusses seven unpublished cases of individuals with rare genetic variants related to recessive diseases involving the TBC1D32 gene, including both fetal and pediatric patients.
- TBC1D32 plays a role in cilia development and function, and the researchers present new data on its associated severe prenatal phenotypes linked to significant congenital abnormalities.
Article Synopsis
- The blood-brain barrier is essential for protecting the central nervous system (CNS) and maintaining its balance, with Claudin-5 (CLDN5) being a key factor in its integrity.
- Researchers discovered new mutations in the CLDN5 gene in 15 unrelated patients, who exhibited symptoms like developmental delays, seizures, and specific brain abnormalities.
- By studying these variants in zebrafish, they found that these mutations likely disrupt the normal function of CLDN5, leading to a new neurodevelopmental disorder that affects both the blood-brain barrier and neuronal health.
Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.
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