Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 26, 2021; 9(30): 9302-9309
Published online Oct 26, 2021. doi: 10.12998/wjcc.v9.i30.9302
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
Feng-Juan Ding, Gui-Zhen Lyu, Victor Wei Zhang, Hua Jin
Feng-Juan Ding, Hua Jin, Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China
Gui-Zhen Lyu, Victor Wei Zhang, AmCare Genomics lab (Guangzhou), Guangzhou 510300, Guangdong Province, China
Victor Wei Zhang, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77001, United States
Author contributions: Ding FJ treated the patient and wrote the manuscript; Lyu GZ reviewed the manuscript; Jin H and Zhang VW assisted in the revision and submission of the manuscript; all authors issued final approval for the version to be submitted.
Supported by Jinan Science and Technology Project, No. 201805014.
Informed consent statement: Informed written consent was obtained from the patient’s parents for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hua Jin, MD, Associate Chief Physician, Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, No. 2 Jianguo Xiaojingsan Road, Shizhong District, Jinan 250001, Shandong Province, China. tonyshirly@163.com
Received: June 7, 2021
Peer-review started: June 7, 2021
First decision: June 25, 2021
Revised: July 9, 2021
Accepted: August 6, 2021
Article in press: August 6, 2021
Published online: October 26, 2021
Processing time: 135 Days and 19 Hours
Core Tip

Core Tip: The dynein cytoplasmic1 heavy chain 1 gene-related diseases include Charcot-Marie-Tooth disease type 20, mental retardation 13, and spinal muscular atrophy with lower extremity predominant 1, all of which are inherited in an autosomal dominant manner. A novel mutation, c.5885G>A (p.R1962H) in the DYNC1H1 gene, led to overlapping phenotypes (seizure, general growth retardation, and muscle weakness) of those three diseases and expanded the DYNC1H1 gene mutation spectrum. And there is no effective treatment for such condition.