title: A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling.
abstract: Mutations in vitamin D receptor (VDR) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product of a consanguineous couple. Mutation analysis showed that she was homozygous for a novel splice site mutation of the VDR gene, 462 + 1 G --> C, resulting in incorporation of the whole 254 bp of the intron 4 into its mRNA. The mutated protein is expected to contain no ligand-binding domain. The fact that she did not develop total alopecia despite of no VDR ligand-binding domain supports that VDR function on hair cycling is ligand independent.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Paravee
authors.initials: P
authors.lastname: Katavetin
authors.forename: Pisut
authors.initials: P
authors.lastname: Katavetin
authors.forename: Suttipong
authors.initials: S
authors.lastname: Wacharasindhu
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D006197:Hair / Q000254:growth & development* / Q000502:physiology; D006801:Humans; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D018167:Receptors, Calcitriol