Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation

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Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. / Yang, Yiqing; Xia, Min; Jin, Qingfeng; Bendahhou, Saïd; Shi, Jingyi; Chen, Yiping; Liang, Bo; Lin, Jie; Liu, Yi; Liu, Ban; Zhou, Qinshu; Zhang, Dongwei; Wang, Rong; Ma, Ning; Su, Xiaoyan; Niu, Kaiya; Pei, Yan; Xu, Wenyuan; Chen, Zhaopeng; Wan, Haiying; Cui, Jianmin; Barhanin, Jacques; Chen, Yihan.

In: American Journal of Human Genetics, Vol. 75, No. 5, 2004, p. 899-905.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Yang, Y, Xia, M, Jin, Q, Bendahhou, S, Shi, J, Chen, Y, Liang, B, Lin, J, Liu, Y, Liu, B, Zhou, Q, Zhang, D, Wang, R, Ma, N, Su, X, Niu, K, Pei, Y, Xu, W, Chen, Z, Wan, H, Cui, J, Barhanin, J & Chen, Y 2004, 'Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation', American Journal of Human Genetics, vol. 75, no. 5, pp. 899-905. https://doi.org/10.1086/425342

APA

Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y., Liang, B., Lin, J., Liu, Y., Liu, B., Zhou, Q., Zhang, D., Wang, R., Ma, N., Su, X., Niu, K., Pei, Y., Xu, W., Chen, Z., ... Chen, Y. (2004). Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. American Journal of Human Genetics, 75(5), 899-905. https://doi.org/10.1086/425342

Vancouver

Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. American Journal of Human Genetics. 2004;75(5):899-905. https://doi.org/10.1086/425342

Author

Yang, Yiqing ; Xia, Min ; Jin, Qingfeng ; Bendahhou, Saïd ; Shi, Jingyi ; Chen, Yiping ; Liang, Bo ; Lin, Jie ; Liu, Yi ; Liu, Ban ; Zhou, Qinshu ; Zhang, Dongwei ; Wang, Rong ; Ma, Ning ; Su, Xiaoyan ; Niu, Kaiya ; Pei, Yan ; Xu, Wenyuan ; Chen, Zhaopeng ; Wan, Haiying ; Cui, Jianmin ; Barhanin, Jacques ; Chen, Yihan. / Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. In: American Journal of Human Genetics. 2004 ; Vol. 75, No. 5. pp. 899-905.

Bibtex

@article{2cee6348d6cd4d8eabea5b0a24dd9f9c,
title = "Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation",
abstract = "Atrial fibrillation (AF) is the most common cardiac arrhythmia encountered in clinical practice. We first reported an S140G mutation of KCNQ1, an alpha subunit of potassium channels, in one Chinese kindred with AF. However, the molecular defects and cellular mechanisms in most patients with AF remain to be identified. We evaluated 28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels (KCNQ1, HERG, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, and KCNJ2). An arginine-to-cysteine mutation at position 27 (R27C) of KCNE2, the beta subunit of the KCNQ1-KCNE2 channel responsible for a background potassium current, was found in 2 of the 28 probands. The mutation was present in all affected members in the two kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G, the mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel; unlike long QT syndrome-associated KCNE2 mutations, it did not alter HERG-KCNE2 current. The mutation did not alter the functions of the HCN channel family either. Thus, KCNE2 R27C is a gain-of-function mutation associated with the initiation and/or maintenance of AF.",
keywords = "Animals, Atrial Fibrillation, Base Sequence, COS Cells, Cercopithecus aethiops, China, Electrocardiography, Female, Humans, Ion Transport, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree, Potassium, Potassium Channels, Potassium Channels, Voltage-Gated, Sequence Analysis, DNA, Transfection",
author = "Yiqing Yang and Min Xia and Qingfeng Jin and Sa{\"i}d Bendahhou and Jingyi Shi and Yiping Chen and Bo Liang and Jie Lin and Yi Liu and Ban Liu and Qinshu Zhou and Dongwei Zhang and Rong Wang and Ning Ma and Xiaoyan Su and Kaiya Niu and Yan Pei and Wenyuan Xu and Zhaopeng Chen and Haiying Wan and Jianmin Cui and Jacques Barhanin and Yihan Chen",
year = "2004",
doi = "10.1086/425342",
language = "English",
volume = "75",
pages = "899--905",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",

}

RIS

TY - JOUR

T1 - Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation

AU - Yang, Yiqing

AU - Xia, Min

AU - Jin, Qingfeng

AU - Bendahhou, Saïd

AU - Shi, Jingyi

AU - Chen, Yiping

AU - Liang, Bo

AU - Lin, Jie

AU - Liu, Yi

AU - Liu, Ban

AU - Zhou, Qinshu

AU - Zhang, Dongwei

AU - Wang, Rong

AU - Ma, Ning

AU - Su, Xiaoyan

AU - Niu, Kaiya

AU - Pei, Yan

AU - Xu, Wenyuan

AU - Chen, Zhaopeng

AU - Wan, Haiying

AU - Cui, Jianmin

AU - Barhanin, Jacques

AU - Chen, Yihan

PY - 2004

Y1 - 2004

N2 - Atrial fibrillation (AF) is the most common cardiac arrhythmia encountered in clinical practice. We first reported an S140G mutation of KCNQ1, an alpha subunit of potassium channels, in one Chinese kindred with AF. However, the molecular defects and cellular mechanisms in most patients with AF remain to be identified. We evaluated 28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels (KCNQ1, HERG, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, and KCNJ2). An arginine-to-cysteine mutation at position 27 (R27C) of KCNE2, the beta subunit of the KCNQ1-KCNE2 channel responsible for a background potassium current, was found in 2 of the 28 probands. The mutation was present in all affected members in the two kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G, the mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel; unlike long QT syndrome-associated KCNE2 mutations, it did not alter HERG-KCNE2 current. The mutation did not alter the functions of the HCN channel family either. Thus, KCNE2 R27C is a gain-of-function mutation associated with the initiation and/or maintenance of AF.

AB - Atrial fibrillation (AF) is the most common cardiac arrhythmia encountered in clinical practice. We first reported an S140G mutation of KCNQ1, an alpha subunit of potassium channels, in one Chinese kindred with AF. However, the molecular defects and cellular mechanisms in most patients with AF remain to be identified. We evaluated 28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels (KCNQ1, HERG, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, and KCNJ2). An arginine-to-cysteine mutation at position 27 (R27C) of KCNE2, the beta subunit of the KCNQ1-KCNE2 channel responsible for a background potassium current, was found in 2 of the 28 probands. The mutation was present in all affected members in the two kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G, the mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel; unlike long QT syndrome-associated KCNE2 mutations, it did not alter HERG-KCNE2 current. The mutation did not alter the functions of the HCN channel family either. Thus, KCNE2 R27C is a gain-of-function mutation associated with the initiation and/or maintenance of AF.

KW - Animals

KW - Atrial Fibrillation

KW - Base Sequence

KW - COS Cells

KW - Cercopithecus aethiops

KW - China

KW - Electrocardiography

KW - Female

KW - Humans

KW - Ion Transport

KW - Male

KW - Middle Aged

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Pedigree

KW - Potassium

KW - Potassium Channels

KW - Potassium Channels, Voltage-Gated

KW - Sequence Analysis, DNA

KW - Transfection

U2 - 10.1086/425342

DO - 10.1086/425342

M3 - Journal article

C2 - 15368194

VL - 75

SP - 899

EP - 905

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -

ID: 40249271