一个新PHEX基因变异导致X连锁遗传性低血磷性佝偻病的家系遗传学分析OA北大核心CSTPCD
Genetic analysis of an X-linked Hypophosphatemic rickets pedigree caused by a novel pathogenic variant in PHEX gene
目的 以一个临床表型为低血磷性佝偻病(hypophosphatemic rickets,HR)的家系为研究对象,通过全外显子组测序寻找该家系的致病变异基因,并分析变异的致病性.方法 收集HR家系临床资料,进行生化检测.提取先证者DNA,进行临床全外显子组测序,并针对可疑致病变异对家系所有成员进行PCR扩增,Sanger测序验证.预测变异的致病性及对蛋白质空间结构的影响.结果 该家系共 3 代,先证者是一位26 岁女性,先证者母亲、先证者及其儿子和…查看全部>>
Objective To investigate a pedigree with the clinical phenotype of hypophosphatemic rickets(HR),and the pathogenic variants was detected by whole-exome sequencing(WES)and analyzed by bioinformatics.Methods The clinical data,biochemical indicators of the HR family members were evaluated.DNA of the proband was extracted for WES experiment.PCR-Sanger sequencing and bioinformatics were performed on all members of the family to analyze the suspected pathogenic va…查看全部>>
康可;张玉薇;张闻宇;侯巧芳;娄桂予
450018 郑州,郑州颐和医院关节与运动医学科450002 郑州,河南省人民医院医学遗传研究所450002 郑州,郑州人民医院内分泌与代谢科450002 郑州,河南省人民医院医学遗传研究所450002 郑州,河南省人民医院医学遗传研究所
临床医学
X连锁遗传性低血磷性佝偻病PHEX基因基因变异
X-linked hypophosphatemic ricketsPHEX genegenetic variation
《中华骨质疏松和骨矿盐疾病杂志》 2024 (3)
213-220,8
河南省医学科技攻关计划省部共建项目(SBGJ202302005)河南省中青年卫生健康科技创新领军人才培养项目(YXKC2021001)
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