Published online Mar 6, 2022. doi: 10.12998/wjcc.v10.i7.2330
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
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.
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.
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.