A novel missense mutation (C84R) in a patient with type II vitamin D-dependent rickets

ASUNIS I;MARINI, MARIA GIUSEPPINA;PORCU, LOREDANA;MELONI A;CABRIOLU, ANNALISA;CAO A;MOI, PAOLO

2010-01-01

---

Abstract

A 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene (VDR). The molecular analysis showed a homozygous state for a novel missense mutation (C84R) in a highly conserved nucleotide in the second Zn finger of the DNA binding domain.