Wang Cheng-Lin
Department of Endocrinology, Shanxi Provincial People's Hospital Affiliated to Shanxi Medical University, Taiyuan 030012, Shanxi Province, China.
World J Clin Cases. 2019 Jun 26;7(12):1522-1528. doi: 10.12998/wjcc.v7.i12.1522.
To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.
The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease.
This is the first report of a new pathogenic mutation in . Further functional studies are particularly necessary to explore potential molecular mechanisms.
通过高通量外显子组测序筛查吉特林综合征患者可能的致病基因位点，并探讨基因型与表型之间的关系。
收集患者的临床资料。采集外周血样本以分离白细胞并提取基因组DNA。由华大基因科技有限公司（中国深圳）完成对先证者候选致病基因的高通量全外显子组测序。测序显示该基因第22外显子存在一个新的杂合错义突变（核苷酸2582处的G到A转换），导致LRP1B蛋白第816位的精氨酸被组氨酸替代，进而引发疾病。
这是该基因新致病突变的首次报道。进一步的功能研究对于探索潜在分子机制尤为必要。
