详情页 - 聚合机构库演示平台

当前位置：首页 > 详情页

A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.

85| 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

单位： [1]Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China

出处：

DOI：

ISSN：

关键词： Perrault syndrome TWNK gene Chinese whole-exome sequencing

摘要：

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome.We report an 11-year-old Chinese girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations. Genetic etiology was identified by whole-exome sequencing and confirmed via Sanger sequencing. Compound heterozygous variants with one novel variant c.1752C>A (p.D584E) and one known pathogenic variant c.1172G>A (p.R391H) in TWNK were discovered in the child and inherited from her parents, respectively.The compound heterozygous variants c.1172G>A (p.R391H) and c.1752C>A (p.D584E) of the TWNK gene probably underlie PRLTS type 5 (PRLTS5). This study expands the mutation spectrum of TWNK pathogenicity in the PRLTS5 phenotype.© 2022 Wei et al.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2021]版：

大类 | 3 区医学

小类 | 3 区药学

最新[2025]版：

大类 | 4 区医学

小类 | 4 区药学

JCR分区：

出版当年[2020]版：

Q2 PHARMACOLOGY & PHARMACY

最新[2023]版：

Q3 PHARMACOLOGY & PHARMACY

影响因子： 1.8 最新[2023版] 1.9 最新五年平均 3.912 出版当年[2020版] 3.724 出版当年五年平均 3.264 出版前一年[2019版] 2.606 出版后一年[2021版]

第一作者：

第一作者单位： [1]Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China

通讯作者：

通讯机构： [1]Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China [*1]Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Jiefang Avenue 1095#, Wuhan, Hubei, 430030, People’s Republic of China

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family [2]Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population. [3]Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women [4]Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population [5]Comparison of T cell infiltration in hepatocellular carcinoma between whole exome and transcriptome sequencing data [6]Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation [7]Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study [8]Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions [9]Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa [10]A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL