A novel PHEX mutation associated with vitamin D-resistant rickets
A novel PHEX mutation associated with vitamin D-resistant rickets
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DOI：
10.1038/s41439-019-0040-3
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发表时间：
2019-02-14
影响因子：
1.5
通讯作者：
Takamura, Toshinari
中科院分区：
文献类型：
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作者：
Sako, Saori;Niida, Yo;Takamura, Toshinari
X连锁低磷酸盐血症性佝偻病（XLH）是遗传性佝偻病的最常见形式。在这里，我们提出了一个XLH的情况下，与一个新的磷酸盐调节基因的突变与同源性内肽酶的X染色体（PHEX）。PCR-直接测序揭示了外显子22中的一个新的PHEX突变，NM_000444.6（PHEX）：c.2202del [p.Asn736Ilefs*4]，靠近编码COOH-末端胞外结构域的3 '-UTR区域。计算机模拟分析表明，N736中的单个突变可能导致高级蛋白质结构和功能的显着变化。
X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. Here, we present a case of XLH associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in exon 22, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], near the 3'-UTR region encoding the COOH-terminal extracellular domain. In silico analysis indicated that a single mutation in N736 may have caused a significant change in higher-order protein structure and function.