Mutation spectrum of Chinese patients with Bartter syndrome.
Mutation spectrum of Chinese patients with Bartter syndrome.
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DOI：
10.18632/oncotarget.21355
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发表时间：
2017-11-24
期刊：
影响因子：
--
通讯作者：
Shao L
中科院分区：
文献类型：
--
作者：
Han Y;Lin Y;Sun Q;Wang S;Gao Y;Shao L
Bartter综合征（BS）在中国人群中除了少数病例报告外，很少被报道。本研究旨在分析16例中国BS患者的致病基因突变，并回顾其随访和治疗情况。通过下一代测序和多重连接依赖性探针扩增（MLPA）鉴定突变。我们回顾了第一次报告时的临床特征和生化检查结果以及随访结果。在14例BS患者中发现了15种不同的CLCNKB基因突变，其中包括11种新突变。在SLC12A1基因中发现了一个新的错义突变和一个新的小片段缺失。在CLCNKA基因中发现了一个新的大缺失。发现BSND基因存在一个反复发生的错义突变。结果发现，CLCNKB基因的全基因缺失突变在本组中国人中最常见（32%），总缺失率高达50%。本研究共发现19个突变，其中14个为新突变，丰富了人类基因突变数据库（HGMD），为中国人群的遗传咨询和诊断提供了有价值的参考。
Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment. Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed. 15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones. A novel missense mutation and a novel small deletion were found from SLC12A1 gene. A novel gross deletion was found in CLCNKA gene. A recurrent missense mutation was identified from BSND gene. We found that the whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32%), and the rate of gross deletion was up to 50 percent in this group of Chinese patients. The present study has found 19 mutations, including 14 novel ones, which would enrich the human gene mutation database (HGMD) and provide valuable references to the genetic counseling and diagnosis of the Chinese population.
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