Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

BACKGROUND/AIM: X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, results from loss-of-function mutations in the phosphate-regulating PHEX gene. Elevated fibroblast growth factor 23 (FGF23) contributes to hypophosphatemia in XLH. This study aimed to characterize PHEX variants and serum FGF23 profiles in Taiwanese patients with XLH. PATIENTS AND METHODS: We retrospectively reviewed the records of 102 patients clinically suspected of having hypophosphatemic rickets from 2006 to 2022. Serum intact Fibroblast growth factor-23 (iFGF23) levels were measured on clinic visit days. PHEX mutations were identified using Sanger sequencing, and negative cases were analyzed using whole-exome sequencing. RESULTS: The majority (92.1%) of patients exhibited elevated FGF23 compared with normal individuals. Among 102 patients, 44 distinct PHEX mutations were identified. Several mutations recurred in multiple unrelated Taiwanese families. We discovered a high frequency of novel PHEX mutations and identified variants associated with extreme FGF23 elevation and tumorigenesis. CONCLUSION: Our findings revealed the PHEX genotypic variants and FGF23 levels in Taiwanese patients with XLH. These results are crucial given the recent approval of burosumab, a monoclonal FGF23 antibody, for XLH therapy. This study provides key insights into the clinical management of XLH in Taiwan.

Design and demonstration of a colorless WDM-OFDMA PON system architecture achieving symmetric 20-Gb/s transmissions with residual interference compensation.

In this paper, we propose a two-tiered colorless WDM-OFDMA PON system architecture that draws strengths from each individual WDM and OFDM PON systems. Specifically, the two-tiered architecture enables a colorless transceiver to be shared by a group of ONUs, resulting in drastic reduction of the system cost. For achieving colorlessness via reusing downstream light sources, we discover the residual power of downstream signal unexpectedly springs back after transmissions, causing severe interference to the upstream signal, and thus limiting the data rate of the upstream signal. We devise a method of adopting a common dispersion compensation module at OLT to reduce the residual power over all wavelengths. Experimental results show that, with an improvement of upstream signal's SNR up to 10 dB, the system successfully achieves 20-Gb/s bidirectional OFDM-signal transmissions on the same wavelength over a 20-km SMF.