Publications by authors named "E Tournier-Lasserve"
Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.
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- The study explores the genetics of cerebral amyloid angiopathy (CAA), which is not widely researched and can impact the understanding of Alzheimer's disease (AD).
- Researchers conducted exome sequencing on 78 patients diagnosed with early-onset CAA, finding notable genetic variants, including pathogenic NOTCH3 mutations in two patients related to CADASIL, a rare vascular condition.
- The findings suggest that there are shared genetic factors between AD and CAA beyond just the APOE gene, with potential susceptibility linked to other rare genetic variants in various risk factor genes.
PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Genet Epidemiol
January 2025
Article Synopsis
- The introduction of Next-Generation Sequencing has advanced rare disease diagnostics, yet many cases still lack a molecular diagnosis due to the complexity of these diseases.
- The new PSAP-genomic-regions method expands on the original PSAP approach by focusing on non-coding genomic regions, allowing for a more comprehensive evaluation of variants.
- Preliminary results demonstrate that PSAP-genomic-regions effectively prioritizes significant non-coding variants, offering a valuable tool for diagnosing unresolved rare diseases, as evidenced by its success in patient data.
Loss-of-function variants in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations. However, genomic DNA sequencing combined with large rearrangement screening fails to detect a pathogenic variant in 5% of the patients. We report a family with two affected members harboring multiple CCM lesions, one with severe hemorrhages and one asymptomatic.
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