Exp Clin Endocrinol Diabetes 2010; 118(3): 177-179
DOI: 10.1055/s-0028-1103275
Short Communication

© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

A Novel Missense Mutation (C84R) in a Patient with Type II Vitamin D-dependent Rickets

I. Asunis1 , 2 , M. G. Marini1 , 2 , L. Porcu1 , A. Meloni1 , A. L. Cabriolu1 , A. Cao1 , 2 , P. Moi1
  • 1Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari
  • 2INN, CNR (National Research Council) – Cagliari
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Publikationsverlauf

received 12.07.2008 first decision 31.10.2008

accepted 31.10.2008

Publikationsdatum:
09. Februar 2010 (online)

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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.