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PHEX 遺伝子変異に NPR2 ミセンス変異を伴う家族性低リン血症性くる病
Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
PMID: 31927522 DOI: 10.1515/jpem-2019-0380.
抄録
背景 家族性低リン血症性くる病は、通常、X-linked hypophosphatemic rickets（XLH）として知られているが、まれな遺伝性疾患である。PHEX遺伝子の変異によって引き起こされるXLHは、しばしば成長遅延、骨格奇形、骨異形成、歯形成不全などの症状を呈します。また、NPR2遺伝子の変異は、不釣り合いな低身長を引き起こすことが報告されている。本研究では、1 家族 3 名の患者の遺伝子変異を同定することを目的とした。症例説明 40歳の中国人男性が継続的な骨痛のため来院し，両側の脚の弓なり，歯の欠落，進行性の足の引きつりを呈した．発症年齢は約2歳であった。63歳の母親と42歳の兄はともに同じ症状を呈していた。検査項目はXLHと一致し，血中リンおよび1,25-ジヒドロキシビタミンD3の低下，尿中リン排泄量の増加を示した．突然変異解析の結果、遺言者、母親、兄弟ともにエクソン14にPHEX変異（c.1543C>T）を有しており、また遺言者はエクソン21にNPR2変異（c.3058C>T）を有していた。結論 中国人患者では報告されていなかったエクソン14（c.1543C>T）のPHEX遺伝子変異に起因する家族性低リン血症性くる病を3例報告した。我々は、これまでに報告されたことのないNPR2変異を伴うXLH症例を初めて報告した。
Background Familial hypophosphatemic rickets, which is usually acknowledged as X-linked hypophosphatemic rickets (XLH), is a rare hereditary disease. XLH caused by mutations in the PHEX gene often manifests as growth retardation, skeletal deformities, osteodynia and dental dysplasia. NPR2 mutations are reported to cause disproportionate short stature. Our study was designed to identify the gene mutations of three patients in one family. Case description A 40-year-old Chinese male visited the hospital for continuous osteodynia and presented with bilateral leg bowing, absent teeth and a progressive limp. The age of onset was approximately 2 years old. His 63-year-old mother and 42-year-old brother both shared identical symptoms with him. The laboratory tests were consistent with XLH, which showed decreased levels of blood phosphorus and 1,25-dihydroxyvitamin D3 as well as increased urinary phosphorus excretion. Mutation analysis revealed that the proband as well as his mother and his brother all had a PHEX mutation in exon 14 (c.1543C > T), and the proband also had a NPR2 mutation in exon 21 (c.3058C > T). Conclusions We report the familial hypophosphatemic rickets of three patients in a Chinese family caused by a PHEX gene mutation in exon 14 (c.1543C > T), which had never been reported in Chinese patients. We first report an XLH case together with a NPR2 mutation that had never been reported before.