A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets

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dc.authoridEren, Erdal/0000-0002-1684-1053
dc.authoridDenkboy Ongen, Yasemin/0000-0002-5657-4260
dc.authoridGurkan, Hakan/0000-0002-8967-6124
dc.authoridDemirbas, Ozgecan/0000-0002-6922-5203
dc.authorwosidEren, Erdal/JPK-3909-2023
dc.contributor.authorDemirbas, Ozgecan
dc.contributor.authorEren, Erdal
dc.contributor.authorÖngen, Yasemin Denkboy
dc.contributor.authorSag, Sebnem Ozemri
dc.contributor.authorGürkan, Hakan
dc.contributor.authorTemel, Sehime Gulsun
dc.date.accessioned2024-06-12T11:03:37Z
dc.date.available2024-06-12T11:03:37Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: X-linked hypophosphatemic is a result of a mutation which leads to loss of function in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The case is here presented of a patient followed up for XLH rickets, with the formation of a stop code through frame-shifting mutation in the PHEX gene. Case Report: An 18-month old male infant presented at our clinic with the complaint of curvature in the legs. In the physical examination of the infant, height was measured as 78 cm (-1.67 SDS) and weight was 12.5 kg (0.52 SDS). Deformity was present in the frontal protusion, the wrist widths and the legs. Laboratory test results were determined as phosphorus: 2.3 mg/dL (n=3.5-4.7), calcium: 9.8 mg/dL (n=8.5-10.5), alkaline phosphatase (ALP) 707 IU/L (n=40-150), 25(OH) D vitamin:18 mu g/L (n=18-40), PTH: 79 pg/mL (n=15-68), and tubular phosphorus reabsorption was low (71%). Visualisation on wrist radiographs of collapse in the metaphyseal sections of the radus and ulna and metaphyseal irregularity. Conventional treatment was started. Next generation sequence analysis of the proband revealed the presence of a hemizygous c.281_288delTTCCCGAA (p.lle94ArgfsTER14) frameshift variant in PHEX gene. This novel variant is pathogenic according to the ACMG criteria, and not reported in any database before. While full-fill clinical recovery was not achieved with conventional treatment and some complications occured, Burosumab treatment was started. Conclusion: Here presented of a patient who was diagnosed with XLH, and was then determined with a novel mutation in the PHEX gene. The current treatment options directed at the basic pathology render genetic diagnosis more important in cases of hypophosphatemic rickets.en_US
dc.identifier.doi10.4274/jcp.2022.83435
dc.identifier.endpage101en_US
dc.identifier.issn1304-9054
dc.identifier.issn1308-6308
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-85158118592en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage98en_US
dc.identifier.urihttps://doi.org/10.4274/jcp.2022.83435
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21722
dc.identifier.volume21en_US
dc.identifier.wosWOS:001061419800013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofGuncel Pediatri-Journal Of Current Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHypophosphatemic Ricketsen_US
dc.subjectPHEX Geneen_US
dc.subjectX-Linkeden_US
dc.subjectPhosphateen_US
dc.subjectFgf-23en_US
dc.titleA Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Ricketsen_US
dc.typeArticleen_US

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