Publications by authors named "A Denomme-Pichon"
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.
Methods: We analyzed data from thirty-nine individuals aged 3-40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.
Article Synopsis
- * A collaboration via GeneMatcher discovered new cases, including a female patient with complete situs inversus and other health issues linked to the MNS1 variants.
- * The findings also included sibling fetuses with different MNS1 mutations, contributing to a better understanding of this rare malformation syndrome.
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
- * A significant challenge arises from "silent" Mendelian genes (SMGs), which show insufficient expression in patient tissues; 36% of these genes are linked to neurological disorders, highlighting the need for improved gene expression techniques.
- * Researchers developed two methods—CRISPR-based gene activation and fibroblast-to-neuron transdifferentiation—to induce SMG expression, achieving remarkable success and enabling further investigation of variants in genes linked to specific diseases.