title: Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets.
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 719C-to-T(I146T)---> c.437C > T(p.T1461) [corrected] mutation in exon 4, whereas she and her mother were both heterozygous for 754C-to-T (R154C)---> c.472 > T(p.R158C) [corrected] 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Jun Kyu
authors.initials: JK
authors.lastname: Song
authors.forename: Kyung Sik
authors.initials: KS
authors.lastname: Yoon
authors.forename: Kye Shik
authors.initials: KS
authors.lastname: Shim
authors.forename: Chong-Woo
authors.initials: CW
authors.lastname: Bae
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D053098:Familial Hypophosphatemic Rickets / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation; D011859:Radiography; D018167:Receptors, Calcitriol / Q000235:genetics*; D056910:Republic of Korea
chemical_list: D018167:Receptors, Calcitriol