Publications by authors named "B Puisac"
Article Synopsis
- - Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that impacts physical development and cognitive abilities, primarily caused by mutations in genes linked to the cohesin complex, though many cases remain undiagnosed.
- - The study presents a family case where multiple members have an intragenic duplication in the AFF2 gene, identified using advanced genomic technologies like high-resolution array Comparative Genomic Hybridization and next-generation sequencing.
- - The research shows a clear correlation between the AFF2 gene mutation and the CdLS phenotype, with the affected individuals displaying significant changes in gene expression and X-inactivation patterns compared to an unaffected relative, suggesting that AFF2 should be included in molecular diagnosis for CdLS.
Article Synopsis
- Cornelia de Lange syndrome (CdLS) is a rare congenital disorder with diverse symptoms, including unique facial features, growth issues, limb reductions, and intellectual disability, with a classic and milder nonclassic phenotype.
- Diagnosis can be challenging due to symptom overlap with other disorders, so consensus criteria and AI tools may assist in confirming cases.
- Genetic causes primarily involve mutations in the NIPBL gene and others related to the cohesin complex, while about 15% of cases remain undiagnosed, indicating potential undiscovered genetic factors; treatment focuses on managing symptoms like gastro-esophageal reflux.
Article Synopsis
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting various body systems, and this study focused on assessing the quality of life (QoL) of 33 individuals with CdLS, aged 4 to 21 years, using the Kidslife questionnaire.
- The findings showed that participants had a below-median QoL, particularly in physical well-being, personal development, and self-determination, with key risk factors identified as variants in the NIPBL gene and significant behavioral and communication challenges.
- The study calls for a holistic approach to CdLS that includes clinical, molecular, and psychosocial support, and emphasizes the importance of targeted interventions to improve QoL
Article Synopsis
- Neurodevelopmental disorder (-NDD) is a rare genetic condition known for causing developmental delays, distinct facial features, and birth defects, with heart disease (HD) commonly observed but under-researched.
- In a study of 11 -NDD patients, 7 were found to have heart disease, including cases of ascending aortic dilatation and mitral valve prolapse, but overall cardiac function appeared normal compared to healthy controls.
- The findings underscore the necessity of cardiac evaluations for all individuals with -NDD, noting a significant prevalence of heart abnormalities in this patient group, alongside new insights into specific heart issues previously undocumented in the syndrome.
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Hyperprolactinemia was the most common endocrine disorder.
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