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Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling by Ishihara, Yasuki (author);Ohata, Yasuhisa (author);Takeyari, Shinji (author);Kitaoka, Taichi (author);Fujiwara, Makoto (author);Nakano, Yukako (author);Yamamoto, Kenichi (author);Yamada, Chieko (author);Yamamoto, Katsusuke (author);Michigami, Toshimi (author);Mabe, Hiroyo (author);Yamaguchi, Takeshi (author);Matsui, Katsuyuki (author);Tamada, Izumi (author);Namba, Noriyuki (author);Yamamoto, Akiko (author);Etoh, Junya (author);Kawaguchi, Azusa (author);Kosugi, Rieko (author);Ozono, Keiichi (author);Kubota, Takuo (author) is a Medicine article available to read on EtoBox.

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X-linked hypophosphatemic rickets (XLH) is an inheritable type of rickets caused by inactivating variants in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene, which results in the overproduction of fibroblast growth factor 23 (FGF23). The mechanism by which PHEX impairment leads to FGF23 overproduction is unknown. Because little is known regarding the genotype-phenotype correlation in Japanese XLH, we summarized the available clinical and genetic data and analyzed the genotype-phenotype relationships using 3-dimensional (3D) structure modeling to clarify the XLH pathophysiology. We retrospectively reviewed the clinical features and performed genetic analysis of 39 Japanese patients with XLH from 28 unrelated pedigrees carrying any known or novel PHEX variant. To predict changes in the 3D structure of mutant PHEX, we constructed a putative 3D model of each mutant and evaluated the effect of structural alteration by genotype-phenotype correlation analysis. Genetic analysis revealed 23 PHEX variants, including eight novel variants. They were associated with high i-FGF23 levels, hypophosphatemia, phosphaturia, high alkaline phosphatase levels, and short stature. No g

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Author

Ishihara, Yasuki (author);Ohata, Yasuhisa (author);Takeyari, Shinji (author);Kitaoka, Taichi (author);Fujiwara, Makoto (author);Nakano, Yukako (author);Yamamoto, Kenichi (author);Yamada, Chieko (author);Yamamoto, Katsusuke (author);Michigami, Toshimi (author);Mabe, Hiroyo (author);Yamaguchi, Takeshi (author);Matsui, Katsuyuki (author);Tamada, Izumi (author);Namba, Noriyuki (author);Yamamoto, Akiko (author);Etoh, Junya (author);Kawaguchi, Azusa (author);Kosugi, Rieko (author);Ozono, Keiichi (author);Kubota, Takuo (author)

Publisher

Elsevier BV

Published

2021

Language

EN

Field

Medicine (Health Sciences)