Authors
Pamela S Smith, Gary S Gottesman, Fan Zhang, Fiona Cook, Beatriz Ramirez, Deborah Wenkert, Valerie Wollberg, Margaret Huskey, Steven Mumm, Michael P Whyte
Publication date
2020/12/1
Journal
Journal of Bone and Mineral Research
Volume
35
Issue
5
Pages
920-931
Publisher
John Wiley & Sons, Inc.
Description
X‐linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non‐coding PHEX 3′‐UTR mutation c.*231A>G. Herein, we characterize this mild XLH variant by comparing its features in 30 individuals to 30 age‐ and sex‐matched patients with XLH but without the 3′‐UTR mutation. The “UTR” and “XLH” groups, both comprising 17 children (2 to 17 years, 3 girls) and 13 adults (23 to 63 years, 10 women), had mean ages of 23 years. Only 43% of the UTR group versus 90 …
Total citations
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