Vitamin D2 or vitamin D3 supplementation in daily dose: Are they equivalent?

Abstract

genomic DNA of 13 Argentinean families in 29 patients in order to characterize these genes. We found five sporadic cases. All patients, except three had been diagnosed in early childhood. FGF 23 was analyzed by bidirectional complete sequencing of the exon 3. In PHEX all 22 exons and introns/exons boundaries were analyzed by SSCP/HD and bidirectional complete sequencing of abnormal migration pattern regions were performed. FGF 23 missense mutation was identified in 4 affected members of a family (G>A, R179Q, in exon 3). Four novel PHEX gene mutations were detected. Family 1: two patients, presented ins G +1 of introns 3–4 in a splice donor. Family 2: three members, had a silence mutation C>A pos 11 exon 3. Family 3: two patients had a codon stop mutation, C>G pos 105 exon 9. A single girl with healthy parents showed silence mutation T>G in pos. 93 exon 20. Patients with XLRH have more severe skeletal disease. We describe 4 novel mutations in gene PHEX. All patients with XLH presented with severe phenotype during follow-up. In contrast, we detected only one family with ADHR with different clinical manifestations. PHEX mutations were detected also in late onset case that could alleviate the search of tumors induced osteomalacia. This article is part of a Special Issue entitled AAOMM 2010 Abstracts.