Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.

doi:10.1002/jcla.24767

科研成果详情

题名	Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
作者	Ruan, Miaohua1; Wang, Hongwei 2; Zhu, Mianmian 1; Sun, Rongyue1; Shi, Jiamin1; Wang, Qiu1; Chen, Yuan 1; Wang, Yihong1; Wang, Dan 1
发表日期	2022-12
发表期刊	Journal of clinical laboratory analysis 影响因子和分区
语种	英语
原始文献类型	Article ; Early Access
关键词	CWF19L1 autosomal recessive cerebellar ataxia compound heterozygous variants novel variant
其他关键词	FULL-LENGTH HUMAN ; CEREBELLAR ; GENERATION ; SEQUENCE ; MUTATION ; REVEALS
摘要	CWF19L1 is responsible for spinocerebellar ataxia, autosomal recessive 17, which presents with cerebellar ataxia, and atrophy. Here, we report novel compound heterozygous variants of CWF19L1 in a Chinese family with progressive ataxia and mental retardation of unknown etiology by analyzing clinical characteristics and genetic variations., Clinical profiles and genomic DNA extracts of family members were collected. Whole-exome and Sanger sequencing were performed to detect associated genetic variants. Pathogenicity prediction and conservation analysis of the identified variants were performed using bioinformatics tools., We identified heterozygous variants at the invariant +2 position (c.1555_c.1557delGAG in exon 14 and c.1070G > T in exon 11) of the CWF19L1 gene. Two novel heterozygous variants of the CWF19L1 gene were identified in the CWF19L1 gene associated with autosomal recessive cerebellar ataxia., Our results suggest that CWF19L1 variants may be a novel cause of recessive ataxia with developmental delay. Whole-exome sequencing is an efficient tool for screening variants associated with the disease. This case report may help diagnose and identify the causes of other ataxias, leading to novel therapies, especially in China. This finding enriches the variant spectrum of the CWF19L1 gene and lays the foundation for future studies on the correlation between genotype and phenotype.
资助项目	Zhejiang Medical Association [2020ZYC--B23]; Wenzhou Technology Bureau [2020Y0419]; Medical Science and Technology Project of Zhejiang Province [2022YK839]; National Natural Science Foundation of China [82070834, 82171701]
出版者	WILEY
出版地	HOBOKEN
ISSN	0887-8013
EISSN	1098-2825
卷号	36 期号:12 页码:e24767
DOI	10.1002/jcla.24767
页数	8
WOS类目	Medical Laboratory Technology
WOS研究方向	Medical Laboratory Technology
WOS记录号	WOS:000882250000001
收录类别	PUBMED ; SCIE ; SCOPUS
URL	查看原文
PubMed ID	36357319
SCOPUSEID	2-s2.0-85141970597
通讯作者地址	[Wang, Dan]Department of Pediatrics,The First Affiliated Hospital of Wenzhou Medical University,No. 2 Fuxue Road, Zhejiang,Wenzhou,325000,China
Scopus学科分类	Immunology and Allergy;Hematology;Public Health, Environmental and Occupational Health;Clinical Biochemistry;Medical Laboratory Technology;Biochemistry (medical);Microbiology (medical)
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/171422
专题	附属第一医院_儿科第一临床医学院（信息与工程学院）、附属第一医院_浙江省胰脏肝脏危重性疾病重点实验室
通讯作者	Wang, Dan
作者单位	1.Department of Pediatrics,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China; 2.Key Laboratory of Diagnosis and Treatment of Severe Hepato-Pancreatic Diseases,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China
第一作者单位	附属第一医院; 第一临床医学院（信息与工程学院）、附属第一医院
通讯作者单位	附属第一医院; 第一临床医学院（信息与工程学院）、附属第一医院
第一作者的第一单位	附属第一医院
推荐引用方式 GB/T 7714	Ruan, Miaohua,Wang, Hongwei,Zhu, Mianmian,et al. Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.[J]. Journal of clinical laboratory analysis,2022,36(12):e24767.
APA	Ruan, Miaohua., Wang, Hongwei., Zhu, Mianmian., Sun, Rongyue., Shi, Jiamin., ... & Wang, Dan. (2022). Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.. Journal of clinical laboratory analysis, 36(12), e24767.
MLA	Ruan, Miaohua,et al."Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.".Journal of clinical laboratory analysis 36.12(2022):e24767.