ArticleMolecular syndromology2016
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.Prenatal diagnosis · 2022Article
- Aicardi syndrome in a 7-month-old girl with tonic seizures and skeletal defects: A case report.Annals of medicine and surgery (2012) · 2021Article
- Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.Neurology · 2021Article
- Understanding Novel Metaphors: A Milestone in the Developmental Trajectory of Children with Agenesis of the Corpus Callosum?Brain sciences · 2020Article
- Case Report: Theory of Mind and Figurative Language in a Child With Agenesis of the Corpus Callosum.Frontiers in psychology · 2020Article
- Aicardi syndrome in a 20-year-old female.American journal of ophthalmology case reports · 2018Article
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Authors and funding
11 authors at 5 institutions in 5 countries.
Funding
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Abstract
Aicardi syndrome (AS) is a well-characterized neurodevelopmental disorder with an unknown etiology. In this study, we performed whole-exome sequencing in 11 female patients with the diagnosis of AS, in order to identify the disease-causing gene. In particular, we focused on detecting variants in the X chromosome, including the analysis of variants with a low number of sequencing reads, in case of somatic mosaicism. For 2 of the patients, we also sequenced the exome of the parents to search for de novo mutations. We did not identify any genetic variants likely to be damaging. Only one single missense variant was identified by the de novo analyses of the 2 trios, and this was considered benign. The failure to identify a disease gene in this study may be due to technical limitations of our study design, including the possibility that the genetic aberration leading to AS is situated in a non-exonic region or that the mutation is somatic and not detectable by our approach. Alternatively, it is possible that AS is genetically heterogeneous and that 11 patients are not sufficient to reveal the causative genes. Future studies of AS should consider designs where also non-exonic regions are explored and apply a sequencing depth so that also low-grade somatic mosaicism can be detected.
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