Zhang Shu, Zhang Qigang, Cheng Longfei, Huang Xiaoli, Peng Yuan, Liang Zhe, Guo Haowei, Pan Qiong
Laboratory of Medical Genetics, Huai'an Maternal and Child Health Hospital, Huai'an, Jiangsu 223002, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):644-647. doi: 10.3760/cma.j.issn.1003-9406.2018.05.005.
To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).
Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.
For pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.
The three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.
探究三个患有低磷血症维生素D抵抗性佝偻病（X连锁低磷血症，XLH）家系的分子基础。
采集三个家系的外周血样本。提取DNA后，对PHEX基因的11个外显子及其侧翼区域进行PCR扩增和直接测序。通过基因型-表型相关性评估已鉴定突变的致病性。
对于家系1和家系2，分别在PHEX基因的外显子8（c.871C>T，p.R291X）和外显子15（c.1601C>T，p.P534L）中鉴定出致病性突变。对于家系3，在PHEX基因的外显子11中发现了一个新突变（c.1234delA，p.S412Vfs*12），该突变导致阅读框移位和蛋白质翻译提前终止。
这三个突变可能是导致受累家系患XLH的原因。新突变的发现丰富了PHEX基因突变谱。
