An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report

Abstract

Mutations in the DCTN1 gene have been found in patients with various neurodegenerative diseases, and the spectrum is still expanding. Here, we report a mutation in DCTN1 (c.175G > C, p.G59R) identified in two patients, who manifested dHMN and ALS, respectively, in an affected family. The clinical manifestations and eightyear follow-up suggested that this mutation is pathogenic. The phenomena observed in this family with the same DCTN1 mutation illustrate the clinical heterogeneity of DCTN1 gene mutations and expand our understanding of their genotype-phenotype relationships. Further research and functional experiments, especially mutation at amino acid position 59 of DCTN1, are required.

Keywords:

• DCTN1
• amyotrophic lateral sclerosis
• dHMN
• mutation
• case report

Acknowledgements

We appreciate the participation of the proband and his family in this study.

Disclosure statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki and approved by the Ethics Committees of Peking University Third Hospital (Beijing, China).

Consent for participation

Written informed consent was obtained from the patients.

Informed consent

Written informed consent was obtained from the patients for publication of this case report.

Data availability statement

The datasets for this article are not publicly available due to concerns regarding participant/patient anonymity. Requests to access the datasets should be directed to the corresponding author.

Author contributions

JH and WY wrote this paper and performed a review of the literature under the supervision of DF. XL followed the affected family members. All authors contributed to the article and approved the submitted version.

Additional information

Funding

This work is funded by the National Natural Science Foundation of China [Grant No. 81974197 and No.81030019].