Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets.
10.3346/jkms.2011.26.8.1111
- Author:
Jun Kyu SONG
1
;
Kyung Sik YOON
;
Kye Shik SHIM
;
Chong Woo BAE
Author Information
1. Department of Biochemistry and Molecular Biology, Kyung Hee University School of Medicine, Seoul, Korea.
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Rickets;
Vitamin D;
Receptor;
Mutation
- MeSH:
Asian Continental Ancestry Group/*genetics;
Base Sequence;
Bone and Bones/abnormalities/radiography;
Child, Preschool;
DNA Mutational Analysis;
Exons;
Female;
Heterozygote;
Humans;
Hypophosphatemic Rickets, X-Linked Dominant/*genetics/radiography;
Point Mutation;
Receptors, Calcitriol/*genetics;
Republic of Korea
- From:Journal of Korean Medical Science
2011;26(8):1111-1114
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.
