机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China科研平台职能科室出生缺陷遗传学研究室临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[2]Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China首都医科大学附属北京儿童医院[3]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China临床科室职能科室临床流行病与循证医学中心重症医学科首都医科大学附属北京儿童医院
Background Dilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss-of-function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in CASZ1 have been previously reported worldwide. Methods To identify the causative variant in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio-whole-exome sequencing was performed followed by mutational analysis and Sanger sequencing. Results An unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in CASZ1 was idenitified in the proband. The frameshift mutation in CASZ1 not only led to DCM but also presented an LVNC phenotype. Conclusion We have identified a novel CASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of CASZ1 variants. Furthermore, this study emphasized the usefulness of whole-exome sequencing for genetic diagnosis of cardiomyopathy.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [31830054, 91539204]; Ministry of Science and Technology of ChinaMinistry of Science and Technology, China [2016YFC1000306]
第一作者机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China[2]Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China
共同第一作者：
通讯作者：
通讯机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China[2]Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China[3]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China[*1]Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.[*2]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
推荐引用方式(GB/T 7714)：
Guo Jun,Li Zheng,Hao Chanjuan,et al.A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy[J].MOLECULAR GENETICS & GENOMIC MEDICINE.2019,7(8):-.doi:10.1002/mgg3.828.
APA：
Guo, Jun,Li, Zheng,Hao, Chanjuan,Guo, Ruolan,Hu, Xuyun...&Li, Wei.(2019).A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.MOLECULAR GENETICS & GENOMIC MEDICINE,7,(8)
MLA：
Guo, Jun,et al."A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy".MOLECULAR GENETICS & GENOMIC MEDICINE 7..8(2019):-
