Li Jie, Xu Peiwen, Huang Sexin, Gao Ming, Zou Yang, Kang Ranran, Gao Yuan
Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):216-219. doi: 10.3760/cma.j.issn.1003-9406.2017.02.014.
To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).
PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.
A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.
The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.
鉴定来自一个患有X连锁低磷血症（XLH）家族的两名患者中PHEX基因的潜在突变。
对患者和100名健康对照的血样进行聚合酶链反应（PCR）和桑格测序。采用逆转录聚合酶链反应（RT-PCR）测定患者样本中的mRNA表达。
在两名患者的PHEX基因中发现了一个剪接位点突变IVS21+2T>G，但在100名健康对照中未发现。RT-PCR证实PHEX基因的第21外显子缺失。
PHEX基因新的剪接突变IVS21+2T>G可能是该家系XLH的病因。在mRNA水平上，该突变导致第21外显子缺失和开放阅读框移位（p.Val691fsx），导致蛋白质翻译提前终止。
