Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome
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三个中国Jervell和Lange-Nielsen综合征家系KCNQ1复合杂合突变的鉴定
DOI：
10.1080/00016489.2016.1260156
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发表时间：
2017-05
影响因子：
1.4
通讯作者：
Yuan Huijun
中科院分区：
文献类型：
--
作者：
Wang Cuicui;Lu Yu;Cheng Jing;Zhang Lei;Liu Wei;Peng Weihua;Zhang Di;Duan Hong;Han Dongyi;Yuan Huijun
摘要结论：除扩大了引起Jervell和Lange-Nielsen综合征(JLNS)的KCNQ1突变谱外，结果还显示了其表型的多样性，强调了分子遗传学分析在确定临床诊断和使聋人在紧急症状之前诊断成为可能的重要性。目的：对3个中国先天性耳聋家系的4例患者进行临床和遗传学调查。方法：采用大规模平行测序的方法，对5000多名中国耳聋患者进行耳聋基因的遗传分析。收集并分析KCNQ1基因复合杂合子或纯合子突变患者的详细临床特征。结果：KCNQ1复合突变是来自3个家系的4例患者的遗传病因。在6个KCNQ1突变中，c.546C >； A为新发现的突变，c.965C >； T已在JLNS中报道，而c.683 + 5G >； A，c.1484_1485delCT，c.905C >； T和c.1831G >； A已在LQT1中报道。除了所有受试者的先天性深度听力损失外，两名同胞受试者还表现出典型的JLNS心脏表型，QTC延长和反复突触发作。一名受试者不仅表现为JLNS，还表现为缺铁性贫血和癫痫。另一名受试者没有任何心脏表型。
Abstract Conclusion: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. Objectives: This study aimed to investigate four patients from three Chinese families with congenital hearing loss clinically and genetically. Method: Genetic analysis of previously reported deafness genes based on massively parallel sequencing was conducted in more than five thousand Chinese hearing loss patients. Detailed clinical features of the patients with compound heterozygous or homozygous mutations of KCNQ1 gene were collected and analyzed. Results: Compound mutations of KCNQ1 were found to be the genetic etiology of four patients from three families. Among the six KCNQ1 mutations, c.546C > A was identified as a novel mutation, c.965C > T had been reported in JLNS, while c.683 + 5G > A, c.1484_1485delCT, c.905C > T and c.1831G > A were previously reported in LQT1. In addition to congenital profound hearing loss in all subjects, two sibling subjects showed typical JLNS cardiac phenotype of prolonged QTc and recurrent syncopal episodes. One subject presented not only JLNS, but also iron-deficiency anemia and epilepsy. The other subject did not present any cardiac phenotype.
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影响因子：
120.7
作者：
Napolitano, C;Priori, SG;Leonardi, S
通讯作者：
Leonardi, S
影响因子：
37.8
作者：
A. Moss;Jennifer L. Robinson
通讯作者：
A. Moss;Jennifer L. Robinson
影响因子：
5.1
作者：
M. Behera
通讯作者：
M. Behera
DOI：
--
发表时间：
--
期刊：
--
影响因子：
--
作者：
Su Zhang;Yin Ke;Xiang;Ren;Pengyun Wang;Shirong Zhang;Lingling Cheng;Junguo Yang;Jing Yu Liu;Mugen Liu;Qing Wang
通讯作者：
Su Zhang;Yin Ke;Xiang;Ren;Pengyun Wang;Shirong Zhang;Lingling Cheng;Junguo Yang;Jing Yu Liu;Mugen Liu;Qing Wang
影响因子：
--
作者：
P. Olley;R. Fowler
通讯作者：
P. Olley;R. Fowler