A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease

被引：4

作者：

Zhang, Guo-long ^{[1
]}

Li, Ming ^{[2
]}

Du, Xu-feng ^{[1
]}

Shi, He-jian ^{[1
]}

Shao, Min-hua ^{[1
]}

Mu, Hui-jun ^{[3
]}

Gu, Yong ^{[1
]}

Yang, Shu-dong ^{[4
]}

机构：

[1] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Dermatol, Wuxi, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Dermatol, Shanghai 200030, Peoples R China

[3] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Cent Lab, Wuxi, Peoples R China

[4] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Dept Pathol, Wuxi, Peoples R China

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2011年 / 64卷 / 01期

关键词：

PHENOTYPES; FAMILIES; SPECTRUM;

D O I：

10.1016/j.jdermsci.2011.06.014

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：72 / 75

页数：4

共 37 条

[21] Novel mutation of the ATP2A2 gene in a case of Darier's disease featuring erosive lesions
Akagi, Arisa
Kitoh, Akihiko
Shimomura, Yutaka
Miyachi, Yoshiki
Kabashima, Kenji
EUROPEAN JOURNAL OF DERMATOLOGY, 2015, 25 (04) : 346 - 348
[22] A novel mutation in exon 1 of the ATP2A2 gene in four members of one Chinese family with Darier disease
Li, C.
Xiao, Z.
Peng, Y.
Liu, Z.
Zhang, Y.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2020, 45 (07) : 925 - 928
[23] Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene
Shimizu, Keisuke
Fujita, Hideki
Fujisawa, Daisuke
Hayama, Koremasa
Aoki, Satomi
Kubo, Akiharu
Terui, Tadashi
JOURNAL OF DERMATOLOGY, 2023, 50 (08): : E240 - E242
[24] Novel discovery of association between the mutation in exon 14 of the ATP2A2 gene and Darier's disease
Yen, Chi-Feng
Fan, Wen-Lang
Wang, Chuang-Wei
Su, Shih-Chi
Chung, Wen-Hung
Hui, Rosaline Chung-Yee
DERMATOLOGICA SINICA, 2018, 36 (04) : 236 - 237
[25] Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change
Racz, E
Csikós, M
Benkö, R
Kornseé, Z
Kárpáti, S
JOURNAL OF DERMATOLOGICAL SCIENCE, 2005, 38 (03) : 231 - 234
[26] A new c.2541delC mutation in the ATP2A2 gene in a Japanese patient with Darier's disease
Hamada, T.
Ishii, N.
Fukuda, S.
Takagi, A.
Yasumoto, S.
Ikeda, S.
Hashimoto, T.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (04) : 457 - 458
[27] A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease
Xiao, Heng
Huang, Xiangjun
Xu, Hongbo
Chen, Xiang
Xiong, Wei
Yang, Zhijian
Deng, Xiong
He, Zhenghao
Deng, Hao
JOURNAL OF CELLULAR BIOCHEMISTRY, 2019, 120 (03) : 3630 - 3636
[28] Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease
Quan, C.
Liang, Y-H
Zhang, Z-Z
Lv, H-L
Ren, Y-Q
Lu, W-S
Gao, M.
Wang, P-G
Yang, S.
Zhang, X-J
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2008, 22 (06) : 745 - 746
[29] A Novel Small Deletion in the ATP2A2 Gene in a Patient with Sporadic Darier’s Disease and Concomitant Depression: A Case Report
Wang Chong
Luan Jing
Niu Zhen-Min
Huang Qiong
Zhang Zheng-Hua
国际皮肤性病学杂志（英文）, 2020, 03 (03) : 176 - 178
[30] Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report
Liu, Linli
Zheng, Xiaotao
Lu, Qinglian
Yu, Chunshui
MEDICINE, 2024, 103 (09) : E37335

← 1 2 3 4 →