Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

Simple item page
dc.contributor.authorGüven, Ayla
dc.contributor.authorAl-Rijjal, Roua A.
dc.contributor.authorBinEssa, Huda A.
dc.contributor.authorKor, Yılmaz
dc.contributor.authorZou, Minjing
dc.contributor.authorKaya, Namık
dc.contributor.authorAlenezi, Anwar F.
dc.contributor.authorHancılı, Suna
dc.contributor.authorBaitei, Essa
dc.contributor.authorKattan, Walaa E.
dc.contributor.authorMeyer, Brian F.
dc.contributor.authorShi, Yufei
dc.contributor.buuauthorDoğan, Durmuş
dc.contributor.buuauthorTarım, Ömer
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı/Çocuk Sağlığı ve Hastalıkları Bilim Dalı.tr_TR
dc.contributor.scopusid24467663400tr_TR
dc.contributor.scopusid6701427186tr_TR
dc.date.accessioned2022-11-01T12:35:45Z
dc.date.available2022-11-01T12:35:45Z
dc.date.issued2017-07
dc.description.abstractContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects in patients with hypophosphataemic rickets. MethodsWe analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis. ResultsA total of 14 patients were studied. PHEX mutations were identified in 12 patients from seven families. Five of them were novel mutations present in eight patients: c.154G>T (p.E52*), c.401_402insGCCAAA (p.Q134_K135insPK), c.1600C>T (p.P534S), g.22016715_22056805del (40-kb deletion including promoter and exons 1-3) and c.2242_2243delCT (p.L748fs*48). Four patients had previously reported mutations: c.1768+1G>A and c.1807G>A (p.W602*). Novel CLCN5 (c.1205G>A, p.W402*) and FGF23 (c.526C>G, p.R176G) mutations were found in two patients from the remaining two families. Many of the mutations were de novo: c.154G>T and c.2242_2243delCT in PHEX and c.526C>G in FGF23. Furthermore, we characterized the breakpoint of the novel PHEX g.22016715_22056805del and the c.2242_2243delCT, which is 6bp from the stop codon, resulting in a frameshift and extension of the reading frame by 42 amino acids. ConclusionsNovel and de novo mutations are frequent and PHEX mutations are still the most common genetic defects in the Turkish population. Gene copy number analysis should be considered in patients with negative results by conventional PCR-based sequencing analysis. The current study further expands the mutation spectrum underlying HR.en_US
dc.description.sponsorshipKACST Biotech - 13-MED1765-20en_US
dc.identifier.citationGüven, A. vd. (2017). ''Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets''. Clinical Endocrinology, 87(1), 103-112.en_US
dc.identifier.endpage112tr_TR
dc.identifier.issn0300-0664
dc.identifier.issue1tr_TR
dc.identifier.pubmed28383812tr_TR
dc.identifier.scopus2-s2.0-85018891865tr_TR
dc.identifier.startpage103tr_TR
dc.identifier.urihttps://doi.org/10.1111/cen.13347
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1111/cen.13347
dc.identifier.urihttp://hdl.handle.net/11452/29306
dc.identifier.volume87tr_TR
dc.identifier.wos000403717400014tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalClinical Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEndocrinology & metabolismen_US
dc.subjectCLCN5en_US
dc.subjectFGF23en_US
dc.subjectHypophosphataemiaen_US
dc.subjectPHEXen_US
dc.subjectRicketsen_US
dc.subjectMolecular-weight proteinuriaen_US
dc.subjectDent diseaseen_US
dc.subjectGenephosen_US
dc.subjectPphateen_US
dc.subjectDmp1en_US
dc.subjectSslc34a3en_US
dc.subjectNephrocalcinosisen_US
dc.subjectHhypercalciuriaen_US
dc.subjectChildrenen_US
dc.subject.emtreeAcetylsalicylic aciden_US
dc.subject.emtreeCalcitriolen_US
dc.subject.emtreeCalciumen_US
dc.subject.emtreeCLCN5 proteinen_US
dc.subject.emtreeEnoxaparinen_US
dc.subject.emtreeFibroblast growth factor 23en_US
dc.subject.emtreeGenomic DNAen_US
dc.subject.emtreeLow molecular weight heparinen_US
dc.subject.emtreePhosphateen_US
dc.subject.emtreePhosphate regulating neutral endopeptidaseen_US
dc.subject.emtreeProgesteroneen_US
dc.subject.emtreeProteinen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeVitamin Den_US
dc.subject.emtreeChloride channelen_US
dc.subject.emtreeCLC-5 chloride channelen_US
dc.subject.emtreeFibroblast growth factoren_US
dc.subject.emtreeFibroblast growth factor 23en_US
dc.subject.emtreePhosphate regulating neutral endopeptidaseen_US
dc.subject.emtreeAcute heart infarctionen_US
dc.subject.emtreeAdd on therapyen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeBone painen_US
dc.subject.emtreeCarboxy terminal sequenceen_US
dc.subject.emtreeCell infiltrationen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeChromosome walkingen_US
dc.subject.emtreeDNA determinationen_US
dc.subject.emtreeExonen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFibrosing alveolitisen_US
dc.subject.emtreeGenetic disorderen_US
dc.subject.emtreeGrowth retardationen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman tissueen_US
dc.subject.emtreeHypophosphatemiaen_US
dc.subject.emtreeHypophosphatemic ricketsen_US
dc.subject.emtreeInflammatory cellen_US
dc.subject.emtreeKidney biopsyen_US
dc.subject.emtreeKidney calcificationen_US
dc.subject.emtreeKidney tubule absorptionen_US
dc.subject.emtreeLaboratory testen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMutational analysisen_US
dc.subject.emtreePolydipsiaen_US
dc.subject.emtreePolymerase chain reactionen_US
dc.subject.emtreePolyuriaen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreePromoter regionen_US
dc.subject.emtreeReading frameen_US
dc.subject.emtreeReverse transcription polymerase chain reactionen_US
dc.subject.emtreeRNA splicingen_US
dc.subject.emtreeShort statureen_US
dc.subject.emtreeStop codonen_US
dc.subject.emtreeTandem repeaten_US
dc.subject.emtreeDna mutational analysisen_US
dc.subject.emtreeFamilyen_US
dc.subject.emtreeGene dosageen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeHypophosphatemic ricketsen_US
dc.subject.emtreePedigreeen_US
dc.subject.emtreeClinical articleen_US
dc.subject.meshChloride channelsen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshFamilyen_US
dc.subject.meshFemaleen_US
dc.subject.meshFibroblast growth factorsen_US
dc.subject.meshGene dosageen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPHEX phosphate regulating neutral endopeptidaseen_US
dc.subject.meshRickets, hypophosphatemicen_US
dc.subject.meshTurkeyen_US
dc.subject.scopusOncogenic Osteomalacia; Familial Hypophosphatemic Rickets; Canceren_US
dc.subject.wosEndocrinology & metabolismen_US
dc.titleMutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic ricketsen_US
dc.typeArticle
dc.wos.quartileQ2en_US

Files

License bundle
Now showing 1 - 1 of 1
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Web of Science
Scopus