Open AccessNovel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report
Author(s) -
Ping Jiang,
Liang Xiao,
Yuan Guo,
Rong Hu,
Bo-Yi Zhang,
Yanmin He
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i7.2330
Subject(s) - frameshift mutation , medicine , missense mutation , nonsense mutation , genetics , mutation , dilated cardiomyopathy , bioinformatics , point mutation , gene , biology , heart failure
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 .