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

作     者：Ping Jiang Liang Xiao Yuan Guo Rong Hu Bo-Yi Zhang Yi He 

作者机构：Department Of CardiologyZhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina Department of PediatricZhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina Department of Medical UltrasonicsZhuzhou Central HospitalZhuzhou 412000Hunan ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2022年第10卷第7期

页      面：2330-2335页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：Supported by Natural Science Foundation of Hunan Province No.2019JJ60087 

主　　题：Alström syndrome Dilated cardiomyopathy Alström syndrome 1 Missense mutation Frameshift mutation Case report 

摘      要：BACKGROUND Alstr?m syndrome(AS)is a rare autosomal recessive disease that is generally induced by mutations of the Alstr?m syndrome 1(ALMS1)*** 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 *** SUMMARY We present the case of an infant with AS mainly manifesting with DCM that was caused by a novel mutation of the ALMS1 ***-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 *** optimized anti-remodeling therapy,biohumoral exams and arrhythmic burden of the infant were alleviated at follow-up after 6 *** We identified novel mutations of ALMS1 and extended the spectrum of ALMS1 mutations in an infant with AS.