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Missense variant in U2AF2 leads to systemic dysmorphism and epilepsy: Report of two cases and literature review
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  • Shiqin Huang,
  • Mei Li,
  • Yunli Han,
  • Hai Yuan,
  • Xiaolan Chen,
  • Yunxuan Su,
  • Xing Li
Shiqin Huang
The First Affiliated Hospital of Guangxi Medical University
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Mei Li
The Affiliated Nanning Maternal and Child Health Hospital of Guangxi Medical University
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Yunli Han
The First Affiliated Hospital of Guangxi Medical University
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Hai Yuan
The First Affiliated Hospital of Guangxi Medical University
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Xiaolan Chen
The First Affiliated Hospital of Guangxi Medical University
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Yunxuan Su
The First Affiliated Hospital of Guangxi Medical University
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Xing Li
The First Affiliated Hospital of Guangxi Medical University

Corresponding Author:lx_84@163.com

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Abstract

Analyzed the clinical characteristics and genetic characteristics of two patients with the U2AF2 gene variant causing systemic malformation and epilepsy. Methods The clinical data and genetic test results of two patients with systemic deformity and epilepsy were retrospectively analyzed, and the literature was reviewed. Results All two patients presented with
29 May 2024Submitted to Clinical Case Reports
06 Jun 2024Submission Checks Completed
06 Jun 2024Assigned to Editor
16 Jun 2024Reviewer(s) Assigned
26 Jul 2024Review(s) Completed, Editorial Evaluation Pending
26 Jul 2024Editorial Decision: Revise Minor
06 Aug 20241st Revision Received
07 Aug 2024Submission Checks Completed
07 Aug 2024Assigned to Editor
07 Aug 2024Review(s) Completed, Editorial Evaluation Pending
19 Aug 2024Reviewer(s) Assigned
21 Sep 2024Editorial Decision: Revise Minor