The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX

• Published in: Chinese medical journal Vol. 132; no. 19; pp. 2376 - 2377
• Main Authors: Chen, Xiang, Tang, Meng-Jia, Wan, Shan, Zhang, Yi, Li, Yu-Jue, Yu, Xi-Jie
• Format: Journal Article
• Language: English
• Published: China Lippincott Williams & Wilkins Ovid Technologies 05.10.2019; Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Wolters Kluwer Health; Wolters Kluwer
• Subjects: Bone Density; Consent; Correspondence; Endocrinology; Familial Hypophosphatemic Rickets - genetics; Fractures; Geriatrics; Humans; Laboratories; Male; Metabolism; Middle Aged; Mutation; PHEX Phosphate Regulating Neutral Endopeptidase - genetics; Research centers; Rickets; X-rays; China; @@
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.1097/CM9.0000000000000454

According to the American College of Medical Genetics and Genomics guidelines (2015), this mutation is predicted to be pathogenic (PVS1 + PM2 + PP1 + PP3). Funding This work was supported by grants from the National Natural Science Foundation of China (Nos. 81770875 and 81572639), the Science and Technology Department of Sichuan Province (No. 2018SZ0142), Sichuan University (No. 2018SCUH0093), and the National Clinical Research Center for Geriatrics of West China Hospital (No. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.cmj.org).Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.