Publications by authors named "H Margot"
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) includes syndromes like Cowden syndrome, with missense variants making up 30% of PHTS cases, yet their classification is complex.
- A study from the Bergonie Institute identified 76 non-truncating variants in 166 patients, developing a new classification method using criteria like functional analysis, phenotypic features, and familial patterns.
- The new approach successfully reclassifies 25 variants, revealing the need to update current classification standards based on multiple factors, and it requires further validation in future research.
Article Synopsis
- * A new case of NKH was identified involving a child with a unique genetic variant in the GLRX5 gene that led to significant neurological problems, confirmed through MRI and cerebrospinal fluid analysis.
- * The child, who experienced a rapid decline in health, passed away at four months old, demonstrating that this case was more severe than previously documented instances of GLRX5-related NKH, emphasizing the importance of genetic factors in the disorder's severity and symptoms.
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.*
Intracellular trafficking involves an intricate machinery of motor complexes including the dynein complex to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains as well as cytoplasmic light and intermediate chains have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons.
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- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.