A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets.
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.
Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy.
I
I
Asunis
M G
MG
Marini
L
L
Porcu
A
A
Meloni
A L
AL
Cabriolu
A
A
Cao
P
P
Moi
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002648:Child; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018167:Receptors, Calcitriol / Q000235:genetics*; D012279:Rickets / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000235:genetics*
D018167:Receptors, Calcitriol