A novel PHEX mutation associated with vitamin D-resistant rickets

Hum Genome Var. 2019 Feb 14;6:9. doi: 10.1038/s41439-019-0040-3. eCollection 2019.

PMID: 30792871

Saori Sako, Yo Niida, Kosuke Robert Shima, Yumie Takeshita, Kiyo-Aki Ishii, Toshinari Takamura

Highlights: In this article, a case of XLH is presented which is associated with a novel mutation in a phosphate-regulating gene on the X chromosome (PHEX). This mutation may have caused a significant change in higher-order protein structure and function.

Abstract

Objective: X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. In this article, a case of XLH is presented which is associated with a novel mutation in a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX).

Conclusion: 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.

Keywords: X-linked hypophosphatemic rickets (XLH), vitamin D-resistant rickets, PHEX