Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia
- 1 November 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Journal of Endocrinological Investigation
- Vol. 43 (11), 1577-1590
- https://doi.org/10.1007/s40618-020-01240-6
Abstract
Purpose X-linked hypophosphatemia (XLH) is the most common inherited renal phosphate wasting disorder and is often misdiagnosed as vitamin D deficiency. This study aims to provide clinical and mutational characteristics of 65 XLH pediatric patients in southern China. Methods In this work, a combination of DNA sequencing and qPCR analysis was used to study the PHEX gene in 80 pediatric patients diagnosed with hypophosphatemia. The clinical and laboratory data of confirmed 65 XLH patients were assessed and analyzed retrospectively. Results In 65 XLH patients from 61 families, 51 different variants in the PHEX gene were identified, including 23 previously reported variants and 28 novel variants. In this cohort of XLH patients, the c.1601C>T(p.Pro534Leu) variant appears more frequently. Fourteen uncommon XLH cases were described, including four boys with de novo mosaic variants, eight patients with large deletions and a pair of monozygotic twins. The clinical manifestations in this cohort are very similar to those previously reported. Conclusion This study extends the mutational spectrum of the PHEX gene, which will contribute to accurate diagnosis. This study also suggests a supplementary qPCR or MLPA assay may be performed along with classical sequencing to confirm the gross insertion/deletion.Funding Information
- National Natural Science Foundation of China (81701128)
- Fund from Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center (Pre-NSFC-2019-008)
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