A novel WDR60 mutation contributes to a delayed diagnosis of Jeune asphyxiating thoracic dystrophy in a chinese patient: A case report

Xiangzhong Zhao; Aihua  Sui; Li Cui; Zhiying Liu; Ruixiao Zhang; Yue Han; leping shao

doi:10.22541/au.166090071.11121622/v1

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A novel WDR60 mutation contributes to a delayed diagnosis of Jeune asphyxiating thoracic dystrophy in a chinese patient: A case report

Xiangzhong Zhao,
Aihua Sui,
Li Cui,
Zhiying Liu,
Ruixiao Zhang,
Yue Han,
leping shao

Abstract

We reported a delayed diagnosised Chinese JATD case with mild skeletal phenotype, and presented with renal insufficiency as the initial symptom of disease onset. Novel bilateral c.2789C>T (p.S930L) mutations in WDR60 gene were identified. Our report will help to improve our awareness and diagnosibility for this disease in China.

09 Feb 2022Submitted to Clinical Case Reports

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09 Feb 2022Submission Checks Completed

09 Feb 2022Assigned to Editor

29 Jul 2022Reviewer(s) Assigned

12 Aug 2022Review(s) Completed, Editorial Evaluation Pending

19 Aug 2022Editorial Decision: Revise Minor

08 Oct 20221st Revision Received

10 Oct 2022Submission Checks Completed

10 Oct 2022Assigned to Editor

10 Oct 2022Review(s) Completed, Editorial Evaluation Pending

20 Oct 2022Editorial Decision: Accept

Abstract

Peer review status:ACCEPTED