Novel mutations of the Alstrom syndrome 1 gene in an infant with dilated cardiomyopathy: A case report.

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-remodel

SUBMITTER: Jiang P 

PROVIDER: S-EPMC8895183 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature