ArticleMolecular genetics & genomic medicine2023
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical Variability of Shashi-Pena Syndrome: A NovelMolecular syndromology · 2025Article
- Additional Sex Combs-like Family Associated with Epigenetic Regulation.International journal of molecular sciences · 2024Review
- Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.Molecular genetics & genomic medicine · 2023Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundASXL2 encodes proteins involved in epigenetic regulation and the assembly of transcription factors at specific genomic loci. Germline de novo truncating variants in ASXL2 have been implicated in Shashi-Pena syndrome, which results in features of developmental delay (DD), glabellar nevus flammeus, hypotonia, and cardiac disorders. However, the variants are rare, and the clinical spectrum may be incomplete.
methodsThe clinical data such as brain MRI were collect. The whole exome sequencing was performed for genetic etiology analysis.
resultsHere, we report a patient with DD, hypotonia, early atrial septal defect, and abnormal white matter signal. She presented with Shashi-Pena syndrome with a truncated variant in ASXL2 (NM_018263.6, c.2142_2152del, p.Ser714Argfs*5). She died of a digestive tract infection when she was 1 year and 6 months old.
conclusionsOur study further expanded the spectrum of phenotypes and genetic variations of the syndrome, and we believe that it is necessary to screen the ASXL2 gene in patients with DD and cardiac and bone disorders.
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