2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究

冉情; 熊丰; 朱岷; 邓蕾丽; 雷培芸; 罗雁红; 曾燕; 朱高慧; 宋萃

doi:10.7499/j.issn.1008-8830.2017.05.011

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中国当代儿科杂志 ›› 2017, Vol. 19 ›› Issue (5) : 534-538. DOI: 10.7499/j.issn.1008-8830.2017.05.011

论著·临床研究

2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究

冉情¹, 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

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

RAN Qing¹, XIONG Feng¹, ZHU Min¹, DENG Lei-Li¹, LEI Pei-Yun², LUO Yan-Hong¹, ZENG Yan¹, ZHU Gao-Hui¹, SONG Cui¹

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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.931dupC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。

Abstract

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+1G > A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.

导出引用

冉情, 熊丰, 朱岷, 邓蕾丽, 雷培芸, 罗雁红, 曾燕, 朱高慧, 宋萃. 2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究[J]. 中国当代儿科杂志. 2017, 19(5): 534-538 https://doi.org/10.7499/j.issn.1008-8830.2017.05.011

RAN Qing, XIONG Feng, ZHU Min, DENG Lei-Li, LEI Pei-Yun, LUO Yan-Hong, ZENG Yan, ZHU Gao-Hui, SONG Cui. Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases[J]. Chinese Journal of Contemporary Pediatrics. 2017, 19(5): 534-538 https://doi.org/10.7499/j.issn.1008-8830.2017.05.011

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