2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究

发布时间：2018-03-29 10:42

本文选题：低血磷性佝偻病　切入点：磷酸盐调节基因　出处：《中国当代儿科杂志》2017年05期

【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+1GA,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+1GA是PHEX基因的两个新突变,可能是XLH新的致病性突变。
[Abstract]:Objective to study the mutation types of phosphate regulatory gene pHEX in 2 children with X- linked hypophosphatosis rickets and their families, and to determine the genetic etiology. Methods the clinical data of 2 patients with XLH were retrospectively analyzed. High throughput sequencing technique was used to detect the XLH pathogenicity gene PHEX of the proband at the genomic level. The pedigree distribution of the mutant gene was verified by PCR-Sanger sequencing. Results the new mutation of PHEX gene was detected in 1 case of PHEX gene mutation c.931dupC, which led to the early termination of translation. The other one was splicing site mutation IVS14 1GA, which led to exon 15 jump and incomplete amino acid chain production. Conclusion c.931dup C and IVS14 1GA are two new mutations of PHEX gene. It may be a new pathogenicity mutation of XLH.
【作者单位】：重庆医科大学附属儿童医院内分泌科;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;
【分类号】：R725.9

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