Sako Saori, Niida Yo, Shima Kosuke Robert, Takeshita Yumie, Ishii Kiyo-Aki, Takamura Toshinari
1Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640 Japan.
2Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, 920-0293 Japan.
Hum Genome Var. 2019 Feb 14;6:9. doi: 10.1038/s41439-019-0040-3. eCollection 2019.
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 (). PCR-direct sequencing revealed a novel mutation in exon 22, NM_000444.6():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.
X连锁低磷性佝偻病（XLH）是最常见的遗传性佝偻病形式。在此，我们报告一例与X染色体上与内肽酶具有同源性的磷酸盐调节基因新突变相关的XLH病例（）。PCR直接测序揭示了外显子22（NM_000444.6）中的一个新突变：c.2202del [p.Asn736Ilefs*4]，位于编码COOH末端细胞外结构域的3'-UTR区域附近。计算机分析表明，N736位点的单个突变可能导致高阶蛋白质结构和功能发生显著变化。
