A Novel HSF4 Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract

被引：10

作者：

Liu, Ling ^{[1
]}

Zhang, Qing ^{[1
]}

Zhou, Lu-xin ^{[1
]}

Tang, Zhao-hui ^{[1
]}

机构：

[1] Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Wuhan 430074, Peoples R China

来源：

JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES | 2015年 / 35卷 / 02期

基金：

中国国家自然科学基金;

关键词：

congenital cataract; mutation; heat shock protein transcription factor 4; restriction fragment length polymorphism; HEAT-SHOCK PROTEINS; MARNER CATARACT; GENE; LENS; ACTIVATOR; LINKAGE;

D O I：

10.1007/s11596-015-1430-5

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.

引用

页码：316 / 318

页数：3

共 50 条

[1] A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract
Ling Liu
Qing Zhang
Lu-xin Zhou
Zhao-hui Tang
Journal of Huazhong University of Science and Technology [Medical Sciences], 2015, 35 : 316 - 318
[2] A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
Berry, V.
Pontikos, N.
Moore, A.
Ionides, A. C. W.
Plagnol, V.
Cheetham, M. E.
Michaelides, M.
EYE, 2018, 32 (04) : 806 - 812
[3] A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family
V Berry
N Pontikos
A Moore
A C W Ionides
V Plagnol
M E Cheetham
M Michaelides
Eye, 2018, 32 : 806 - 812
[4] Novel HSF4 mutation causes congenital total white cataract in a Chinese family
Ke, Tie
Wang, Qing K.
Ji, Binchu
Wang, Xu
Liu, Ping
Zhang, Xianqin
Tang, Zhaohui
Ren, Xiang
Liu, Mugen
AMERICAN JOURNAL OF OPHTHALMOLOGY, 2006, 142 (02) : 298 - 303
[5] A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract
Mahdiyeh Behnam
Eri Imagawa
Ahmad Reza Salehi Chaleshtori
Firooze Ronasian
Mansoor Salehi
Noriko Miyake
Naomichi Matsumoto
Journal of Human Genetics, 2016, 61 : 177 - 179
[6] A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract
Behnam, Mahdiyeh
Imagawa, Eri
Chaleshtori, Ahmad Reza Salehi
Ronasian, Firooze
Salehi, Mansoor
Miyake, Noriko
Matsumoto, Naomichi
JOURNAL OF HUMAN GENETICS, 2016, 61 (02) : 177 - 179
[7] A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
Lv, Huibin
Huang, Chen
Zhang, Jing
Liu, Ziyuan
Zhang, Zhike
Xu, Haining
You, Yuchen
Hu, Jinping
Li, Xuemin
Wang, Wei
G3-GENES GENOMES GENETICS, 2014, 4 (05): : 823 - 828
[8] A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract
Smaoui, N
Beltaief, O
BenHamed, S
M'Rad, R
Maazoul, F
Ouertani, A
Chaabouni, H
Hejtmancik, JF
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 (08) : 2716 - 2721
[9] A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
Chen, Qiang
Ma, Junjie
Yan, Ming
Mothobi, Maneo Emily
Liu, Yuanyuan
Zheng, Fang
MOLECULAR VISION, 2009, 15 (143): : 1359 - 1365
[10] A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
Wang, Li
Chen, Xueli
Lu, Yi
Wu, Jihong
Yang, Boqi
Sun, Xinghuai
MOLECULAR VISION, 2011, 17 (91-92): : 804 - 809

← 1 2 3 4 5 →