X连锁低磷血症性佝偻病患者的新型PHEX基因突变：2例分析
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
作者信息
Ran Qing, Xiong Feng, Zhu Min, Deng Lei-Li, Lei Pei-Yun, Luo Yan-Hong, Zeng Yan, Zhu Gao-Hui, Song Cui
机构信息
Department of Endocrinology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):534-538. doi: 10.7499/j.issn.1008-8830.2017.05.011.
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.
目的
研究2例X连锁低磷性佝偻病（XLH）患者及其家系的PHEX基因突变情况，明确其遗传病因。
方法
对2例XLH患者的临床资料进行回顾性分析。采用高通量测序检测XLH致病基因PHEX基因，用PCR-Sanger测序验证家系中突变的分布情况。
结果
2例患者PHEX基因均存在新的突变；1例患者发生移码突变c.931dupC，导致翻译提前终止，产生截短蛋白p.Gln311Profs*13；另1例患者发生剪接位点突变IVS14+1G>A，导致外显子15跳跃，产生不完整的氨基酸链。他们的父母基因表型正常。
结论
c.931dupC和IVS14+1G>A是PHEX基因的两个新突变，可能是XLH的新致病突变。
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