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

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.departmentTıp Fakültesi
dc.contributor.departmentÇocuk Endokrinoloji Ana Bilim Dalı
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Bilim Dalı
dc.contributor.scopusid24467663400
dc.contributor.scopusid6701427186
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.
dc.description.sponsorshipKACST Biotech - 13-MED1765-20
dc.identifier.citationGüven, A. vd. (2017). ''Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets''. Clinical Endocrinology, 87(1), 103-112.
dc.identifier.endpage112
dc.identifier.issn0300-0664
dc.identifier.issue1
dc.identifier.pubmed28383812
dc.identifier.scopus2-s2.0-85018891865
dc.identifier.startpage103
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.volume87
dc.identifier.wos000403717400014
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherWiley
dc.relation.collaborationYurt içi
dc.relation.collaborationSanayi
dc.relation.journalClinical Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectEndocrinology & metabolism
dc.subjectCLCN5
dc.subjectFGF23
dc.subjectHypophosphataemia
dc.subjectPHEX
dc.subjectRickets
dc.subjectMolecular-weight proteinuria
dc.subjectDent disease
dc.subjectGenephos
dc.subjectPphate
dc.subjectDmp1
dc.subjectSslc34a3
dc.subjectNephrocalcinosis
dc.subjectHhypercalciuria
dc.subjectChildren
dc.subject.emtreeAcetylsalicylic acid
dc.subject.emtreeCalcitriol
dc.subject.emtreeCalcium
dc.subject.emtreeCLCN5 protein
dc.subject.emtreeEnoxaparin
dc.subject.emtreeFibroblast growth factor 23
dc.subject.emtreeGenomic DNA
dc.subject.emtreeLow molecular weight heparin
dc.subject.emtreePhosphate
dc.subject.emtreePhosphate regulating neutral endopeptidase
dc.subject.emtreeProgesterone
dc.subject.emtreeProtein
dc.subject.emtreeUnclassified drug
dc.subject.emtreeVitamin D
dc.subject.emtreeChloride channel
dc.subject.emtreeCLC-5 chloride channel
dc.subject.emtreeFibroblast growth factor
dc.subject.emtreeFibroblast growth factor 23
dc.subject.emtreePhosphate regulating neutral endopeptidase
dc.subject.emtreeAcute heart infarction
dc.subject.emtreeAdd on therapy
dc.subject.emtreeAdolescent
dc.subject.emtreeArticle
dc.subject.emtreeBone pain
dc.subject.emtreeCarboxy terminal sequence
dc.subject.emtreeCell infiltration
dc.subject.emtreeChild
dc.subject.emtreeChromosome walking
dc.subject.emtreeDNA determination
dc.subject.emtreeExon
dc.subject.emtreeFemale
dc.subject.emtreeFibrosing alveolitis
dc.subject.emtreeGenetic disorder
dc.subject.emtreeGrowth retardation
dc.subject.emtreeHuman
dc.subject.emtreeHuman tissue
dc.subject.emtreeHypophosphatemia
dc.subject.emtreeHypophosphatemic rickets
dc.subject.emtreeInflammatory cell
dc.subject.emtreeKidney biopsy
dc.subject.emtreeKidney calcification
dc.subject.emtreeKidney tubule absorption
dc.subject.emtreeLaboratory test
dc.subject.emtreeMale
dc.subject.emtreeMutational analysis
dc.subject.emtreePolydipsia
dc.subject.emtreePolymerase chain reaction
dc.subject.emtreePolyuria
dc.subject.emtreePreschool child
dc.subject.emtreePriority journal
dc.subject.emtreePromoter region
dc.subject.emtreeReading frame
dc.subject.emtreeReverse transcription polymerase chain reaction
dc.subject.emtreeRNA splicing
dc.subject.emtreeShort stature
dc.subject.emtreeStop codon
dc.subject.emtreeTandem repeat
dc.subject.emtreeDna mutational analysis
dc.subject.emtreeFamily
dc.subject.emtreeGene dosage
dc.subject.emtreeGenetics
dc.subject.emtreeHypophosphatemic rickets
dc.subject.emtreePedigree
dc.subject.emtreeClinical article
dc.subject.meshChloride channels
dc.subject.meshDNA mutational analysis
dc.subject.meshFamily
dc.subject.meshFemale
dc.subject.meshFibroblast growth factors
dc.subject.meshGene dosage
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshPedigree
dc.subject.meshPHEX phosphate regulating neutral endopeptidase
dc.subject.meshRickets, hypophosphatemic
dc.subject.meshTurkey
dc.subject.scopusOncogenic Osteomalacia; Familial Hypophosphatemic Rickets; Cancer
dc.subject.wosEndocrinology & metabolism
dc.titleMutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
dc.typeArticle
dc.wos.quartileQ2
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Endokrinoloji Ana Bilim Dalı/Çocuk Sağlığı ve Hastalıkları Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

Files

License bundle

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