title: Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.
abstract: A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
authors.affiliation: Department of Pediatrics, National Reference Center for Rare Calcium and Phosphorus Metabolism Diseases, Rouen University Hospital and CIC INSERM 204, Rouen University Faculty of Medicine, Rouen, France.
authors.forename: Mireille
authors.initials: M
authors.lastname: Castanet
authors.forename: Eric
authors.initials: E
authors.lastname: Mallet
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Kottler
mesh_terms: D000483:Alleles; D019587:Dietary Supplements; D004200:Diseases in Twins; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D007223:Infant; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D010281:Parathyroid Hormone / Q000378:metabolism; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA; D035781:Siblings; D013250:Steroid Hydroxylases / Q000235:genetics*; D014807:Vitamin D / Q000627:therapeutic use*; D065668:Vitamin D3 24-Hydroxylase
chemical_list: D010281:Parathyroid Hormone; D014807:Vitamin D; D013250:Steroid Hydroxylases; C585549:CYP24A1 protein, human; D065668:Vitamin D3 24-Hydroxylase
keywords: 1,25(OH)2D; 1,25-dihydroxyvitamin D; IIH; Idiopathic infantile hypercalcemia; PCR; PTH; Parathyroid hormone; Polymerase chain reaction