2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究  

Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets:an analysis of 2 cases

作　　者：冉情 熊丰[1] 朱岷[1] 邓蕾丽[1] 雷培芸[2] 罗雁红[1] 曾燕[1] 朱高慧[1] 宋萃[1] 

机构地区：[1]重庆医科大学附属儿童医院内分泌科,重庆400014 [2]重庆医科大学附属儿童医院核医学科,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室,儿童肿瘤研究室,重庆400014

出　　处：《中国当代儿科杂志》2017年第5期534-538,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：目的研究2例X-连锁低血磷性佝偻病(XLH)患儿及家系磷酸盐调节基因(PHEX)的突变类型,以明确其遗传学病因。方法回顾性分析2例XLH患者临床资料,应用高通量测序技术从基因组水平对先证者的XLH致病基因PHEX进行检测,并应用PCR-Sanger测序法对突变基因的家系分布进行验证。结果 2例患儿均检测到PHEX基因新发突变,1例为移码突变c.931dupC,导致翻译提前终止,产生截短蛋白p.Gln311Profs*13;另1例为剪接位点突变IVS14+1G>A,导致外显子15跳跃,产生不完整的氨基酸链。2例患儿父母的基因表型均正常。结论 c.931dup C和IVS14+1G>A是PHEX基因的两个新突变,可能是XLH新的致病性突变。Objective To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets（XLH） and their families and to clarify the genetic etiology. Methods A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. Results Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs＊13; the other patient had a splice site mutation, IVS14＋1G〉A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes. Conclusions c.931dupC and IVS14＋1GA are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.

关 键 词：低血磷性佝偻病 磷酸盐调节基因 突变分析 儿童 

分 类 号：R725.9[医药卫生—儿科]