A novel splicing defect (IVS6+1G > T) in a patient with pseudovitamin D deficiency rickets

PORCU, LOREDANA;MELONI A;CASULA L;ASUNIS I;MARINI, MARIA GIUSEPPINA;CAO A;MOI P.

2002-01-01

---

Abstract

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 25OHD(3) 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. (C) 2002, Editrice Kurtis.