ArticleMolecular medicine reports2019
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Article in Molecular medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Studying Familial Bainbridge-Ropers Syndrome Due to a NovelChildren (Basel, Switzerland) · 2026Article
- ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.Frontiers in neuroscience · 2025Article
- Additional Sex Combs-like Family Associated with Epigenetic Regulation.International journal of molecular sciences · 2024Review
- ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2.Biochemistry and biophysics reports · 2023Article
- De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.Molecular genetics & genomic medicine · 2022Review
- Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.Journal of human genetics · 2022Article
- Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.Human genetics · 2021Article
- Novel mutation in theWorld journal of clinical cases · 2020Article
- Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.Neurogenetics · 2020Article
- The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.BMC medical genomics · 2019Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia and facial dimorphism. The present study reports a case of a girl (born in 2013) with severe global developmental delay, central hypotonia, microcephaly and poor speech. The proband was examined using a multi‑step molecular diagnostics algorithm, including karyotype and array‑comparative genomic hybridization analysis, with negative results. Therefore, the proband and her unaffected parents were enrolled for a pilot study using targeted next‑generation sequencing technology (NGS) with gene panel ClearSeq Inherited DiseaseXT and subsequent validation by Sanger sequencing. A novel de novo heterozygous frameshift variant in the ASXL3 gene (c.3006delT, p.R1004Efs*21), predicted to result in a premature termination codon, was identified. In conclusion, the present study demonstrated that targeted NGS using a suitable, gene‑rich panel may provide a conclusive molecular genetics diagnosis in children with severe global developmental delays.
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