A novel UBE2A splice site mutation with intellectual disability type Nascimento

Shuyuan Yan; yanling wang; Ying  chen; Xiaoni Kuang; Da Hou; Xueyi Li; Linglin Pan; Guangwen Huang; Xiangwen Peng; Jun He; Tuanmei  Wang

doi:10.22541/au.163098656.68415620/v1

loading page

A novel UBE2A splice site mutation with intellectual disability type Nascimento

Shuyuan Yan,
yanling wang,
Ying chen,
Xiaoni Kuang,
Da Hou,
Xueyi Li,
Linglin Pan,
Guangwen Huang,
Xiangwen Peng,
Jun He,
Tuanmei Wang

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

Show details

Hide details

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

Abstract

Peer review status:ACCEPTED