Jiang P, Xiao L, Guo Y, Hu R, Zhang BY, He Y. Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report. World J Clin Cases 2022; 10(7): 2330-2335 [PMID: 35321175 DOI: 10.12998/wjcc.v10.i7.2330]
Corresponding Author of This Article
Yi He, MBBS, Chief Physician, Department Of Cardiology, Zhuzhou Central Hospital, No. 118 South Changjiang Road, Zhuzhou 412000, Hunan Province, China. heyicardiology@163.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Mar 6, 2022; 10(7): 2330-2335 Published online Mar 6, 2022. doi: 10.12998/wjcc.v10.i7.2330
Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report
Ping Jiang, Liang Xiao, Yuan Guo, Rong Hu, Bo-Yi Zhang, Yi He
Ping Jiang, Yuan Guo, Yi He, Department Of Cardiology, Zhuzhou Central Hospital, Zhuzhou 412000, Hunan Province, China
Liang Xiao, Department of Pediatric, Zhuzhou Central Hospital, Zhuzhou 412000, Hunan Province, China
Rong Hu, Bo-Yi Zhang, Department of Medical Ultrasonics, Zhuzhou Central Hospital, Zhuzhou 412000, Hunan Province, China
Author contributions: Jiang P and He Y reviewed the literature and contributed to manuscript drafting; Hu R and Zhang YB performed follow-up work and interpreted the data; Xiao L and Guo Y analyzed and interpreted the gene sequencing; all authors approved the final version to be submitted.
Supported byNatural Science Foundation of Hunan Province, No. 2019JJ60087.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised 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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yi He, MBBS, Chief Physician, Department Of Cardiology, Zhuzhou Central Hospital, No. 118 South Changjiang Road, Zhuzhou 412000, Hunan Province, China. heyicardiology@163.com
Received: October 5, 2021 Peer-review started: October 5, 2021 First decision: November 11, 2021 Revised: November 21, 2021 Accepted: January 19, 2022 Article in press: January 19, 2022 Published online: March 6, 2022 Processing time: 147 Days and 19.1 Hours
Abstract
BACKGROUND
Alström syndrome (AS) is a rare autosomal recessive disease that is generally induced by mutations of the Alström syndrome 1 (ALMS1) gene. We report a case of AS, extend the spectrum of ALMS1 mutations and highlight the biological role of ALMS1 to explore the relationship between dilated cardiomyopathy (DCM) and mutations in ALMS1.
CASE SUMMARY
We present the case of an infant with AS mainly manifesting with DCM that was caused by a novel mutation of the ALMS1 gene. Whole-exome sequencing revealed a simultaneous large deletion and point mutation in ALMS1, leading to frameshift and missense mutations, respectively, rather than nonsense or frameshift mutations, which have been reported previously. Upon optimized anti-remodeling therapy, biohumoral exams and arrhythmic burden of the infant were alleviated at follow-up after 6 mo.
CONCLUSION
We identified novel mutations of ALMS1 and extended the spectrum of ALMS1 mutations in an infant with AS.
Core Tip: We present the case of an infant with dilated cardiomyopathy (DCM) who was diagnosed with Alström syndrome at the early stage of the disease. Whole-exome sequencing revealed that a large deletion and point mutation simultaneously occurred in the Alström syndrome 1 (ALMS1) gene, leading to frameshift and missense mutations, respectively, rather than nonsense or frameshift mutations, which have been reported previously. Likewise, to date, few interpretations have been made of the related mechanism of the novel ALMS1 gene mutation to induce DCM in infants.
