Publications by authors named "Sacha Weber"
A 50-year-old man presented with headache. Examination showed left sided ataxic hemiparesis and elevated blood pressure. Brain imaging revealed an acute intracerebral hemorrhage in the right lentiform nucleus, deep and periventricular white matter hyperintensities, and predominantly deep cerebral microbleeds.
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- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Am J Med Genet C Semin Med Genet
December 2024
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).
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- * Researchers found 23 specific changes in a gene related to this complex that affect 38 people, leading to problems with brain cell growth and learning in animals.
- * By targeting certain stress response proteins, they discovered ways to help fix some of the immune issues caused by these disorders, leading to new ideas for treatments.
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail.
View Article and Find Full Text PDFGENETICS OF AMYOTROPHIC LATERAL SCLEROSIS. Approximately 10 to 15% of people with amyotrophic lateral sclerosis (ALS) have a family history of the disease. In 2/3 of them, but also in 10% of subjects without any family history of ALS, a pathogenic genetic variant can be identified.
View Article and Find Full Text PDFHeterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects.
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- Pathogenic variants in KMT5B, a lysine methyltransferase, are linked to global developmental issues, macrocephaly, autism, and other congenital anomalies, but the disorder is still not fully understood.
- A study examining 43 patients revealed new significant features like hypotonia and congenital heart defects not previously associated with this condition.
- Research using patient cell lines and KMT5B knockout mice showed that these variants lead to slow growth and highlighted alterations in pathways related to nervous system development, enhancing our understanding of the disorder's molecular mechanisms.
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- Kabuki syndrome (KS) is a rare genetic disorder marked by distinctive facial features, intellectual disability, and various physical malformations.
- In a study involving 177 individuals with KS, significant percentages displayed immunopathological issues: 44.1% had infection susceptibility, 58.2% had low immunoglobulin levels, and there were notable occurrences of autoimmune diseases.
- The findings underscore the critical need for regular screening and preventive care for these potentially serious health issues in KS patients.
A method using remotely sensed data was developed to map the incidence of Q fever in the vicinity of Cayenne, French Guiana. A satellite image was processed to map land cover and generate a population density index, which was used to determine areas of high disease incidence during the 1996-2000 period. A comparison with results obtained using population census data showed strong concordance between the two incidence maps.
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