Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

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dc.authoridTasic, Velibor/0000-0002-3377-1245
dc.authoridTutunculer, Filiz/0000-0003-3710-288X
dc.authorwosidLoke, Kah Yin/E-6586-2015
dc.authorwosidTaha, Doris/IVH-9117-2023
dc.authorwosidTasic, Velibor/H-8714-2019
dc.contributor.authorMalloy, Peter J.
dc.contributor.authorTasic, Velibor
dc.contributor.authorTaha, Doris
dc.contributor.authorTutunculer, Filiz
dc.contributor.authorYing, Goh Siok
dc.contributor.authorYin, Loke Kah
dc.contributor.authorWang, Jining
dc.date.accessioned2024-06-12T11:17:12Z
dc.date.available2024-06-12T11:17:12Z
dc.date.issued2014
dc.departmentTrakya Üniversitesien_US
dc.description.abstractContext: Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene. The human gene encoding the VDR is located on chromosome 12 and comprises eight coding exons and seven introns. Objectives, patients, and methods: We analyzed the VDR gene of 5 previously unreported patients, two from Singapore and one each from Macedonia (former Yugoslav Republic), Saudi Arabia and Turkey. Each patient had clinical and radiographic features of rickets, hypocalcemia, and the 4 cases that had the measurement showed elevated serum concentrations of 1,25-dihydroxyvitamin D (1,25(OH)(2)D). Mutations were re-created in the WT VDR cDNA and examined for 1,25(OH)(2)D-3-mediated transactivation in COS-7 monkey kidney cells. Results: Direct sequencing identified four novel mutations and two previously described mutations in the VDR gene. The novel mutations included a missense mutation in exon 3 causing the amino acid change C60W; a missense mutation in exon 4 causing the amino add change D144N; a missense mutation in exon 7 causing the amino add change N276Y; and a 2 bp deletion in exon 3 5'-splice site (IVS3 Delta + 4-5) leading to a premature stop. Conclusions: These 4 unique mutations add to the previous 45 mutations identified in the VDR gene in patients with HVDRR. (C) 2013 Elsevier Inc. All rights reserved.en_US
dc.description.sponsorshipNIH [DK42482]en_US
dc.description.sponsorshipSupported by NIH Grant DK42482 (to D.F.)en_US
dc.identifier.doi10.1016/j.ymgme.2013.10.014
dc.identifier.endpage40en_US
dc.identifier.issn1096-7192
dc.identifier.issn1096-7206
dc.identifier.issue1en_US
dc.identifier.pmid24246681en_US
dc.identifier.scopus2-s2.0-84891827932en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage33en_US
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2013.10.014
dc.identifier.urihttps://hdl.handle.net/20.500.14551/24591
dc.identifier.volume111en_US
dc.identifier.wosWOS:000330158100005en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofMolecular Genetics And Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectVitamin Den_US
dc.subjectRicketsen_US
dc.subjectHypocalcemiaen_US
dc.subjectMutationsen_US
dc.subjectVitamin D Receptoren_US
dc.subjectHVDRRen_US
dc.subjectLigand-Binding Domainen_US
dc.subjectCompound Heterozygous Mutationsen_US
dc.subjectD-Dependent Ricketsen_US
dc.subjectDeoxyribonucleic-Aciden_US
dc.subjectNonsense Mutationen_US
dc.subjectMissense Mutationen_US
dc.subjectChromosomal Geneen_US
dc.subjectPoint Mutationsen_US
dc.subjectVdr Geneen_US
dc.subjectHormoneen_US
dc.titleVitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant ricketsen_US
dc.typeArticleen_US

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