ArticleEuropean journal of human genetics : EJHG2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 17 citations in OpenAlex.
- Review
- Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.Journal of clinical immunology · 2026Article
- Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.European journal of pediatrics · 2026Article
- Identification of Novel Co-OccurringThe application of clinical genetics · 2026Article
- Rest Induces a Distinct Transcriptional Program in the Nervous System of the ExercisedInternational journal of molecular sciences · 2025Article
- Identifying a novelWorld journal of clinical cases · 2025Article
- NERD-seq: a novel approach of Nanopore direct RNA sequencing that expands representation of non-coding RNAs.Genome biology · 2024Article
- Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.Journal of human genetics · 2024Article
- Investigating mobile element variations by statistical genetics.Human genome variation · 2024Review
- PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.Nature communications · 2023Article
- Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.American journal of human genetics · 2023Article
- 2022: the year that was in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2023Article
- Rare diseases of epigenetic origin: Challenges and opportunities.Frontiers in genetics · 2023Review
- Guidelines, guidelines everywhere-and still I'm not sure what to do.European journal of human genetics : EJHG · 2022Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Pathogenic variants in the SRCAP (SNF2-related CREBBP activator protein) gene, which encodes a chromatin-remodeling ATPase, cause neurodevelopmental disorders including Floating Harbor syndrome (FLHS). Here, we report the discovery of a de novo transposon insertion in SRCAP exon 13 from trio genome sequencing in a 28-year-old female with failure to thrive, developmental delay, mood disorder and seizure disorder. The insertion was a full-length (~2.8 kb), antisense-oriented SVA insertion relative to the SRCAP transcript, bearing a 5' transduction and hallmarks of target-primed reverse transcription. The 20-bp 5' transduction allowed us to trace the source SVA element to an intron of a long non-coding RNA on chromosome 12, which is highly expressed in testis. RNA sequencing and qRT-PCR confirmed significant depletion of SRCAP expression and low-level exon skipping in the proband. This case highlights a novel disease-causing structural variant and the importance of transposon analysis in a clinical diagnostic setting.
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