A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets.
A 15-month-old boy with severe rickets, that by clinical analysis was diagnosed as affected by hereditary pseudovitamin D deficiency rickets (PDDR), was evaluated for mutations in the 25OHD3 1alpha-hydroxylase gene. Molecular analysis showed a double heterozygous state for a novel splicing mutation in the invariant dinucleotide of the donor site of IVS6 and a 7 nucleotide insertion in the exon 8, which is common in different ethnical backgrounds.
Biomedical and Biotechnological Sciences Department, Cagliari University, Italy.
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D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000172:deficiency / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D004247:DNA / Q000737:chemistry; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*; D012279:Rickets / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014808:Vitamin D Deficiency / Q000201:enzymology / Q000235:genetics*
D004247:DNA; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase