Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes potassium voltage-gated channel subfamily H m...

Full description

Bibliographic Details
Main Authors:	Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong
Format:	Article
Language:	English
Published:	Compuscript Ltd 2020-06-01
Series:	Cardiovascular Innovations and Applications
Online Access:	https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2019.0578

Similar Items

The <it>Helicobacter pylori </it>duodenal ulcer promoting gene, <it>dupA </it>in China
by: Liu Wenzhong, et al.
Published: (2008-10-01)

A report on Allelic Variation in Helicobacter pylori dupA: A viewpoint
by: Golzar Fatahi, et al.
Published: (2017-08-01)

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing
by: Ying Peng, et al.
Published: (2020-06-01)

Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing
by: Guangming Fang, et al.
Published: (2020-08-01)

dupA+H. pylori reduces diversity of gastric microbiome and increases risk of erosive gastritis
by: Ruiyan Chen, et al.
Published: (2023-03-01)

Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant
by: Lamia Goual, et al.
Published: (2023-10-01)

Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant
by: Jiangtao Zhao, et al.
Published: (2022-08-01)

Systematic review and meta-analysis: the relationship between the <it>Helicobacter pylori </it><it>dupA </it>gene and clinical outcomes
by: Shiota Seiji, et al.
Published: (2010-10-01)

The distribution of cagA and dupA genes in Helicobacter pylori strains in Kurdistan region, northern Iraq
by: Azad M. Salih, et al.
Published: (2013-05-01)

Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation
by: Fengfeng Guo, et al.
Published: (2022-07-01)

Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7
by: Zhi-ting Chen, et al.
Published: (2021-03-01)

Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3
by: Xiaoyu Hu, et al.
Published: (2022-05-01)

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.
by: Anthony Owusu-Mensah, et al.
Published: (2024-01-01)

Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2
by: Tao Wang, et al.
Published: (2021-10-01)

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
by: Annejet Heida, et al.
Published: (2019-01-01)

Relationship between isotopic composition (Δ18O and Δ13C) and plaktonic foraminifera test size in core tops from the Brazilian Continental Margin
by: Paula Franco-Fraguas, et al.
Published: (2011-12-01)

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing
by: Amir Farjam Fazelifar, et al.
Published: (2023-06-01)

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
by: Erfan Kohansal, et al.
Published: (2024-05-01)

Matrix metalloproteinase-3 promoter polymorphisms but not <it>dupA</it>-<it>H. pylori </it>correlate to duodenal ulcers in <it>H. pylori</it>-infected females
by: Yeh Yi-Chun, et al.
Published: (2010-08-01)

Lack of association of the 11 beta-hydroxysteroid dehydrogenase type 1 gene 25669dupA polymorphism with obesity and metabolic syndrome
by: Odysseas Kaitozis, et al.
Published: (2021-03-01)

Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)
by: Rengchen Qian, et al.
Published: (2021-05-01)

JUP212 - BI. MARCH 2004
by: PPKAW, Pusat Pengajian Kejuruteraan Awam
Published: (2004)

Cross-Channel Marriage and Royal Succession in the Age of Charles the Simple and Athelstan (c. 916-936)
by: Simon MacLean
Published: (2015-01-01)

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)
by: Sijia He, et al.
Published: (2022-05-01)

A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2
by: Hyun Sok Yoo, et al.
Published: (2021-01-01)

Geographic distribution of the cagA, vacA, iceA, oipA and dupA genes of Helicobacter pylori strains isolated in China
by: Zhijing Xue, et al.
Published: (2021-06-01)

JUP201/3 - BI. MARCH 2004
by: PPKAW, Pusat Pengajian Kejuruteraan Awam
Published: (2004)

ΔΙΑΔΟΧΟΣ: algunas precisiones lingüísticas
by: José B. Torres
Published: (2005-01-01)

ΔΙΑΔΟΧΟΣ: algunas precisiones lingüísticas
by: José B. Torres
Published: (2006-01-01)

Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)
by: Maria Arvio, et al.
Published: (2023-01-01)

Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.
by: Anton Mihic, et al.
Published: (2011-03-01)

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene
by: Carla Giustetto, MD, et al.
Published: (2015-09-01)

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
by: Renan Gomes, et al.

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
by: Hans U Luder, et al.
Published: (2013-01-01)

LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia
by: Jialing Deng, et al.
Published: (2024-06-01)

C++ gui programming with qt 4 /
by: 440185 Blanchette, Jasmin, et al.
Published: (2008)

The Taming of Digenes: The Plan of <i>Digenes Akrites</i>, Grottaferrata Version, Book IV
by: Andrew R. Dyck
Published: (2005-06-01)

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report
by: Thomas Caiffa, et al.
Published: (2022-08-01)

Effects of differential distributed-JUP on the malignancy of gastric cancer
by: Yanlin Chen, et al.
Published: (2021-02-01)

The ESO SupJup Survey. III. Confirmation of 13CO in YSES 1 b and Atmospheric Detection of YSES 1 c with CRIRES+
by: Yapeng Zhang, et al.
Published: (2024-01-01)