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首页> 外文期刊>Case Reports in Genetics >A NovelPHEXMutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
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A NovelPHEXMutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

机译：X连锁低磷酸盐血症性Japanese病的日本患者中的新型PHEXMututation。

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X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH. Here, we report a 16-year-old female patient affected by hypophosphatemic rickets. We evaluated her serum fibroblast growth factor 23 (FGF23) levels and conducted sequence analysis of the disease-associated genes of FGF23-related hypophosphatemic rickets:PHEX,FGF23, dentin matrix protein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1. She was diagnosed with XLH based on her clinical features and family history. Additionally, we observed elevated FGF23 levels and a novelPHEXexon 9 mutation (c.947G>T; p.Gly316Val) inherited from her father. Although bioinformatics showed that the mutation was neutral, Gly316 is perfectly conserved among humans, mice, and rats, and there were no mutations in other FGF23-related rickets genes, suggesting thatin silicoanalysis is limited in determining mutation pathogenicity. In summary, we present a female patient and her father with XLH harboring a novelPHEXmutation that appears to be causative of disease. Measurement of FGF23 for hypophosphatemic patients is therefore useful for the diagnosis of FGF23-dependent hypophosphatemia.
机译：X连锁低磷酸盐血症性ets病（XLH）是一种主要的遗传性疾病，其特征在于肾脏磷酸盐消耗，维生素D代谢异常和骨骼矿化异常。已经发现，编码磷酸盐调节基因的基因中的失活突变与X染色体上的内肽酶具有同源性（PHEX），这与XLH有关。在这里，我们报告了一名16岁女性患者，患有低磷酸盐血症性ets病。我们评估了她的血清成纤维细胞生长因子23（FGF23）水平，并对与FGF23相关的低磷酸盐hypo病的疾病相关基因进行了序列分析：PHEX，FGF23，牙本质基质蛋白1和外核苷酸焦磷酸酶/磷酸二酯酶1。她被诊断出患有XLH根据她的临床特征和家族史。此外，我们观察到了FGF23水平升高和从父亲那里继承的新的PHEXexon 9突变（c.947G> T; p.Gly316Val）。尽管生物信息学表明突变是中性的，但Gly316在人，小鼠和大鼠中是完全保守的，并且其他FGF23相关病基因中没有突变，这表明硅计算机分析在确定突变致病性方面受到限制。总而言之，我们介绍了一名女性患者和她的父亲，患有XLH，其携带的新型PHEX突变似乎是疾病的诱因。因此，针对低磷酸盐血症患者的FGF23的测量可用于诊断FGF23依赖性低磷酸盐血症。

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