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.

中文翻译：

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与抗维生素D mutation病有关的新型PHEX突变

X连锁低磷酸盐血症性rick病（XLH）是遗传性病的最常见形式。在这里，我们介绍了一例与磷酸调节基因的新突变相关的XLH突变，该基因与X染色体上的内肽酶（PHEX）具有同源性。PCR直接测序结果显示，在外显子22 NM_000444.6（PHEX）：c.2202del [p.Asn736Ilefs * 4]的新PHEX突变位于编码COOH末端胞外域的3'-UTR区附近。计算机分析表明，N736中的单个突变可能已引起高阶蛋白质结构和功能的重大变化。