{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:53:03Z","timestamp":1790610783342,"version":"4.1.0"},"reference-count":52,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This work aimed to identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Fifty patients (24 males) from 39 unrelated families were included. Based on initial evaluation, PHEX gene sequencing was performed in patients with clinical and biochemical findings suggestive of FGF23-dependent HH. If sequencing showed no alterations, multiplex ligation-dependent probe amplification (MLPA) analysis for PHEX was conducted. Initially, a specific gene panel was performed for FGF23-independent HH or those in whom the PHEX gene showed no genetic alteration.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Genetic etiology was revealed in 43 patients from 33 families. PHEX gene variants (4 novel) were identified in 24 patients from 19 unrelated families (50%). SLC34A3 was the second most common (16.6%) and the rest were rarer causes of hypophosphatemia (DMP1 n = 3, SLC34A1 n = 2, CLCN5 n = 2, OCRL n = 2, FAM20C n = 1, SLC2A2 n = 1). When the genetically proven FGF23-dependent (n = 28) and FGF23-independent (n = 15) HH groups were compared for clinical and biochemical features; lower phosphate and TmP\/GFR SDSs and higher ALP SDS with more severe clinical rickets were detected in FGF23-dependent group, whereas higher serum and urine calcium and lower PTH levels were detected in FGF23-independent group.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The application of MLPA provided an additional explanatory value of 10% to the molecular etiology. However, 10% of the cases of HH still remain unexplained even after a comprehensive genetic work-up. Biochemical findings suggest distinct biochemical profiles between FGF23-dependent and FGF23-independent HH groups.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae868","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T15:53:36Z","timestamp":1734623616000},"page":"e3021-e3030","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6977-9620","authenticated-orcid":false,"given":"Mehmet","family":"Eltan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine , 34854 Istanbul 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