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

BACKGROUND Alstrom syndrome (AS) is a rare autosomal recessive disease that is generally induced by mutations of the Alstrom 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 a n infant with AS.

Automated summary

We report a case of an infant with Alstrom syndrome (AS) presenting with dilated cardiomyopathy (DCM) 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. The baby's biohumoral exams and arrhythmic burden improved after optimized anti-remodeling therapy at a 6-month follow-up.