Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report.
World J Clin Cases
; 10(7): 2330-2335, 2022 Mar 06.
Article
en En
| MEDLINE
| ID: mdl-35321175
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. CASESUMMARY:
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
World J Clin Cases
Año:
2022
Tipo del documento:
Article
País de afiliación:
China