ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage.Internal medicine (Tokyo, Japan) · 2026Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Epileptic seizures revealing tuberous sclerosis in a tropical environment: A study of 12 case series.eNeurologicalSci · 2024Article
- Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Human molecular genetics · 2024Article
- Case report: A novelFrontiers in medicine · 2024Article
- The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.Skin health and disease · 2023Review
- Multi-exonClinical case reports · 2022Article
- The False Dawn of Polygenic Risk Scores for Human Disease Prediction.Journal of personalized medicine · 2022Article
- Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.Molecular genetics & genomic medicine · 2022Article
- Gonosomal Mosaicism for a NovelGenes · 2021Article
- Role of Clinical Genetic Testing in the Management of Aortopathies.Current cardiology reports · 2021Review
- The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020Review
- Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.The Journal of molecular diagnostics : JMD · 2020Article
- The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.Biomolecules · 2020Review
- Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome.The American journal of case reports · 2019Article
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11 authors.
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Abstract
purposeVascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown.
methodsThis retrospective study included a large series of COL3A1-confirmed vEDS probands with family information. The frequency of de novo cases was evaluated and the distribution of the type of variants was compared according to the mode of inheritance. The COL3A1 mosaicism was studied by deep targeted next- generation sequencing (NGS) from parental blood DNA.
resultsOut of 177 vEDS probands, 90 had a negative family history, suggesting a high rate (50.8%) of de novo pathogenic variants, enriched in the more severe COL3A1 variants (no null variant). Among those, both parental DNA were available in 36 cases and one parental DNA in 18 cases. NGS detected only one mosaicism from maternal blood DNA (allelic ratio 18%), which was confirmed in saliva (allelic ratio 22%).
conclusionvEDS is characterized by a high frequency of de novo pathogenic variants. Parental mosaicism is rare (2-3%), but should be systematically searched with targeted NGS, taking into account its importance in genetic counseling.
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