Genetic and clinical characteristics of patients with vitamin D dependent rickets type 1A

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dc.authoridBülent Hacıhamdioğlu / 0000-0001-7070-6429en_US
dc.authorscopusidBülent Hacıhamdioğlu / 22134579900
dc.authorwosidBülent Hacıhamdioğlu / GBK-6773-2022
dc.contributor.authorDursun, Fatma
dc.contributor.authorÖzgürhan, Gamze
dc.contributor.authorKırmızıbekmez, Heves
dc.contributor.authorKeskin, Ece
dc.contributor.authorHacıhamdioğlu, Bülent
dc.date.accessioned2020-08-30T20:06:58Z
dc.date.available2020-08-30T20:06:58Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionKIRMIZIBEKMEZ, HEVES/0000-0002-8663-3452; Hacihamdioglu, Bulent/0000-0001-7070-6429en_US
dc.description.abstractObjective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1 alpha-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. Methods: We analysed genomic DNA from II patients from eight different Turkish families. The patients were recruited for our studies if they presented with a diagnosis of VDDR. Results: The mean +/- standard deviation age at diagnosis was 13.1 +/- 7.4 months. Seven patients had mild hypocalcemia at presentation while four patients had normal calcium concentrations. All patients underwent CYP27B1 gene analysis. The most prevalent mutation was the c.195 + 2T > G splice donor site mutation, affecting five out of II patients with VDDR1A. Two patients from the fourth family were compound heterozygous for c. 195 + 2T > G and c.195 + 2 T > A in intron-1. Two patients, from different families, were homozygous for a previously reported duplication mutation in exon 8 (1319_1 325dupCCCACCC, Phe443Profs*24). One patient had a homozygous splice site mutation in intron 7 (c. 1215 + 2 T > A) and one patient had a homozygous mutation in exon 9 (c.1474 C > T). Conclusion: Intron-1 mutation was the most common mutation, as previously reported. All patients carrying that mutation were from same city of origin suggesting a "founder" or a "common ancestor" effect. VDDR 1 A should definitely be considered when a patient with signs of rickets has a normal 25-OHD level or when there is unresponsiveness to vitamin D treatment.en_US
dc.identifier.citationDursun, F., Ozgurhan, G., Kirmizibekmez, H., Keskin, E., & Hacihamdioglu, B. (2019). Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 11(1), 34–40. https://doi.org/10.4274/jcrpe.galenos.2018.2018.0121en_US
dc.identifier.doi10.4274/jcrpe.galenos.2018.2018.0121en_US
dc.identifier.endpage40en_US
dc.identifier.issn1308-5727en_US
dc.identifier.issn1308-5735en_US
dc.identifier.issue1en_US
dc.identifier.pmid30282619en_US
dc.identifier.scopus2-s2.0-85061969426en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage34en_US
dc.identifier.trdizinid334223en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2018.2018.0121
dc.identifier.urihttps://hdl.handle.net/20.500.12713/664
dc.identifier.volume11en_US
dc.identifier.wosWOS:000459188200005en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHacıhamdioğlu, Bülenten_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectVitamin Den_US
dc.subjectVitamin D Dependent Ricketsen_US
dc.subjectCyp27b1 Geneen_US
dc.subject1 Alpha Hydroxylaseen_US
dc.titleGenetic and clinical characteristics of patients with vitamin D dependent rickets type 1Aen_US
dc.typeArticleen_US

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