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Title: Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Authors: Malloy, P.J.
Tasic, V.
Taha, D.
Tütüncüler, F.
Ying, G.S.
Yin, L.K. 
Wang, J.
Feldman, D.
Keywords: HVDRR
Vitamin D
Vitamin D receptor
Issue Date: 2014
Source: Malloy, P.J., Tasic, V., Taha, D., Tütüncüler, F., Ying, G.S., Yin, L.K., Wang, J., Feldman, D. (2014). Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. Molecular Genetics and Metabolism 111 : 33-40. ScholarBank@NUS Repository.
Abstract: Context: 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)2D). Mutations were re-created in the WT VDR cDNA and examined for 1,25(OH)2D3-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 acid change D144N; a missense mutation in exon 7 causing the amino acid change N276Y; and a 2. bp deletion in exon 3 5'-splice site (IVS3+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. © 2013 Elsevier Inc.
Source Title: Molecular Genetics and Metabolism
ISSN: 10967192
DOI: 10.1016/j.ymgme.2013.10.014
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