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December 11, 2025Frontiers in GeneticsOpen Access

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

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Authors

MYMing YangUniversity of Science and Technology of ChinaYXYanfang XiaoZhuzhou Central HospitalCCChen Chan-juanSichuan University

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Overview

Case report reveals dual genetic diagnosis contributing to global developmental delay in a boy, suggesting gene–environment interactions.

Key Points

  • To describe the rare dual diagnosis of ASXL3 mutation and 15q11.2 microdeletion leading to severe neurodevelopmental phenotype.
  • Case report of a 7-month-old boy with severe global developmental delays and associated symptoms.
  • Whole-exome sequencing conducted for molecular diagnosis.
  • Protein–protein-interaction network constructed using STRING database.
  • Identified de novo nonsense mutation in ASXL3 and a 1.22-Mb 15q11.2 microdeletion inherited from the father.
  • PPI network analysis showed no significant interactions between ASXL3 and deletion-encoded proteins, indicating pathway convergence.
  • Phenotypic expression amplified by 15q11.2 microdeletion confirmed, suggesting multilocus pathogenic variation.

Cite This Study

Yang et al. (2025) studied this question.

synapsesocial.com/papers/69401b0d2d562116f28f708ahttps://doi.org/10.3389/fgene.2025.1674158
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Studying Familial Bainbridge–Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum2026
  2. 2Speech and Language Development of Two Brothers With Bainbridge‐Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar <scp><i>ASXL3</i></scp> Hypothesis2025 · 3 citations
  3. 3Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis2025 · 2 citations
  4. 4Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations2025
  5. 5A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing2026