%0 Journal Article
%T A novel PHEX mutation associated with vitamin D-resistant rickets
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0040-3
%X 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 (PHEX). PCR-direct sequencing revealed a novel PHEX mutation in exon 22, NM_000444.6(PHEX):c.2202del [p.Asn736Ilefs*4], near the 3กไ-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
%U https://www.nature.com/articles/s41439-019-0040-3