J Korean Med Sci.  2011 Aug;26(8):1111-1114. 10.3346/jkms.2011.26.8.1111.

Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets

• Song JK
• Yoon KS
• Shim KS
• Bae CW

• KMID: 1777854
• DOI: http://doi.org/10.3346/jkms.2011.26.8.1111

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.

Keyword

Rickets; Vitamin D; Receptor; Mutation

MeSH Terms

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

Figure

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  Fig. 1 (A) The X-ray of lower extremities of the patient shows curved legs. (B) The X-ray of wrist of the patient shows the metaphyseal fraying and cupping of distal radius and ulna.

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  Fig. 2 The analysis of VDR nucleotide sequences of the patient and her parents. (A) a 719 C-to-T mutation (Ile146Thr) in Exon 4 of her and her father's VDR gene. (B) 754 C-to-T mutation (Arg154Cys) in Exon 5 of her and her mother's VDR gene.

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