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A novel UBE2A splice site mutation with intellectual disability type Nascimento
  • +8
  • Shuyuan Yan,
  • yanling wang,
  • Ying chen,
  • Xiaoni Kuang,
  • Da Hou,
  • Xueyi Li,
  • Linglin Pan,
  • Guangwen Huang,
  • Xiangwen Peng,
  • Jun He,
  • Tuanmei Wang
Shuyuan Yan
Hunan Normal University

Corresponding Author:[email protected]

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yanling wang
Hunan Normal University
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Ying chen
Hunan Normal University
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Xiaoni Kuang
Hunan Normal University
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Da Hou
Hunan Normal University
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Xueyi Li
Hunan Normal University
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Linglin Pan
Hunan Normal University
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Guangwen Huang
Hunan Normal University
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Xiangwen Peng
Hunan Normal University
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Jun He
Hunan Normal University
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Tuanmei Wang
Hunan Normal University
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Abstract

Recently, only two splice-site mutations of the UBE2A gene have been observed in patients with X-linked ID type Nascimento (XLID). We found a novel splice site mutation in UBE2A (c.241+1 G>A) and novel clinical appearances, including a typical four-finger line and erected head unstable.
29 Jul 2021Submitted to Clinical Case Reports
29 Jul 2021Submission Checks Completed
29 Jul 2021Assigned to Editor
07 Sep 2021Reviewer(s) Assigned
17 Sep 2021Review(s) Completed, Editorial Evaluation Pending
28 Dec 2021Editorial Decision: Revise Minor
08 Feb 20221st Revision Received
08 Feb 2022Submission Checks Completed
08 Feb 2022Assigned to Editor
08 Feb 2022Review(s) Completed, Editorial Evaluation Pending
02 Mar 2022Reviewer(s) Assigned
28 Mar 2022Editorial Decision: Revise Minor
08 Apr 20222nd Revision Received
19 Apr 2022Submission Checks Completed
19 Apr 2022Assigned to Editor
19 Apr 2022Review(s) Completed, Editorial Evaluation Pending
22 Apr 2022Editorial Decision: Accept