Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome
文献类型：期刊论文
| 作者 | Yu, Y. ; Xu, C. ; Pan, X. ; Ren, H. ; Wang, W. ; Meng, X. ; Huang, F. ; Chen, N. |
| 刊名 | CLINICAL GENETICS
 |
| 出版日期 | 2010 |
| 卷号 | 77期号:2页码:155-162 |
| 关键词 | Bartter syndrome ClC-Kb CLCNKB mutation CHLORIDE CHANNEL GENE CALCIUM-SENSING RECEPTOR SYNDROME TYPE-III CL TRANSPORT HENLE LOOP INNER-EAR KB GENE GITELMAN KIDNEY |
| ISSN号 | 0009-9163 |
| 通讯作者 | Chen, N (reprint author), Shanghai Ruijin Hosp, Dept Nephrol, 197 Rui Jin Er Rd, Shanghai 200025, Peoples R China,chen.doc@163.com |
| 英文摘要 | Mutations in the gene CLCNKB encoding the ClC-Kb chloride channel causes classic Bartter syndrome, which is characterized by hypokalaemic metabolic alkalosis, renal salt loss, hyper-reninaemic hyperaldosteronism and normal blood pressure. We aimed to investigate the underlying mutations in CLCNKB in two Chinese patients with classic Bartter syndrome and then test the effect of the mutations on ClC-Kb chloride channel activity. Mutation analysis of CLCNKB was performed by polymerase chain reaction (PCR) direct sequencing. Expression of the wild-type and mutant ClC-Kb was heterologous in Xenopus laevis oocytes. We identified three novel CLCNKB gene mutations, including one homozygous missense mutation (R351W) in one patient and two compound heterozygous mutations (R30X and A210V) in the other. As determined by two-electrode voltage-clamp analysis of ClC-Kb channel activity, R30X abolished the current amplitude; A210V and R351W significantly reduced the current amplitude. A210V was almost as sensitive as the wild type to extracellular pH and calcium, whereas R351W removed extracellular calcium activation and markedly reduced alkaline pH activation of ClC-Kb. The three novel CLCNKB mutations we identified in two Chinese patients with classic Bartter syndrome have a role in altering the functional properties of ClC-Kb channels. |
| 学科主题 | Genetics & Heredity |
| 收录类别 | SCI |
| 资助信息 | National Natural Scientific Foundation, China[30670972] |
| 语种 | 英语 |
| 公开日期 | 2012-07-13 |
| 源URL | [http://ir.sibs.ac.cn/handle/331001/1619]  |
| 专题 | 上海神经科学研究所_神经所(总) |
| 推荐引用方式 GB/T 7714 | Yu, Y.,Xu, C.,Pan, X.,et al. Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome[J]. CLINICAL GENETICS,2010,77(2):155-162. |
| APA | Yu, Y..,Xu, C..,Pan, X..,Ren, H..,Wang, W..,...&Chen, N..(2010).Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.CLINICAL GENETICS,77(2),155-162. |
| MLA | Yu, Y.,et al."Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome".CLINICAL GENETICS 77.2(2010):155-162. |
入库方式： OAI收割
来源：上海神经科学研究所
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