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
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
ISSN0887-8013
EISSN1098-2825
卷号36期号:12页码:e24767
DOI10.1002/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 ID36357319
SCOPUSEID2-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.

条目包含的文件

条目无相关文件。
个性服务
查看访问统计
谷歌学术
谷歌学术中相似的文章
[Ruan, Miaohua]的文章
[Wang, Hongwei]的文章
[Zhu, Mianmian]的文章
百度学术
百度学术中相似的文章
[Ruan, Miaohua]的文章
[Wang, Hongwei]的文章
[Zhu, Mianmian]的文章
必应学术
必应学术中相似的文章
[Ruan, Miaohua]的文章
[Wang, Hongwei]的文章
[Zhu, Mianmian]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。