The identification of a novel splicing mutation in the DMD gene of a Chinese family

Wanlu Liu; Xinwei Shi; Yuqi Li; Fuyuan Qiao; Yuanyuan Wu

doi:10.22541/au.163308103.31867516/v1

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The identification of a novel splicing mutation in the DMD gene of a Chinese family

Wanlu Liu,
Xinwei Shi,
Yuqi Li,
Fuyuan Qiao,
Yuanyuan Wu

Abstract

The Duchenne Muscular Dystrophy (DMD) gene variants are associated with the disease phenotypes. The pathogenic mutation, c.2293-1G>C, was detected in DMD gene in the proband and the fetus, which has not been reported in the literature.The minigene expression in vitro confirmed that c.2293-1G>C is responsible of aberrant splicing.

23 Sep 2021Submitted to Clinical Case Reports

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24 Sep 2021Submission Checks Completed

24 Sep 2021Assigned to Editor

01 Oct 2021Reviewer(s) Assigned

04 Oct 2021Review(s) Completed, Editorial Evaluation Pending

04 Oct 2021Editorial Decision: Revise Minor

25 Oct 20211st Revision Received

27 Oct 2021Submission Checks Completed

27 Oct 2021Assigned to Editor

27 Oct 2021Review(s) Completed, Editorial Evaluation Pending

05 Nov 2021Editorial Decision: Accept

Dec 2021Published in Clinical Case Reports volume 9 issue 12. 10.1002/ccr3.5166

Abstract

Peer review status:Published