CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency

• Published in: The journal of clinical endocrinology and metabolism Vol. 100; no. 7; pp. E1005 - E1013
• Main Authors: Thacher, Tom D., Fischer, Philip R., Singh, Ravinder J., Roizen, Jeffrey, Levine, Michael A.
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 01.07.2015; Copyright by The Endocrine Society; Endocrine Society
• Subjects: 25-Hydroxyvitamin D; Adolescent; Adult; Base Sequence; Child; Child, Preschool; Cholestanetriol 26-Monooxygenase - genetics; Cohort Studies; Cytochrome P450 Family 2; Family; Homeostasis; Humans; Hydroxylase; Hydroxylation; Infant; JCEM Online: Advances in Genetics; Middle Aged; Missense mutation; Mutants; Mutation; Mutation, Missense; Nigeria - epidemiology; Oral administration; Pedigree; Polymorphism, Single Nucleotide; Rickets; Rickets - epidemiology; Rickets - genetics; Vitamin D; Vitamin D - analogs & derivatives; Vitamin D - biosynthesis; Vitamin D Deficiency - epidemiology; Vitamin D Deficiency - genetics; Vitamin deficiency; Young Adult

Context:Production of the active vitamin D hormone 1,25-dihydroxyvitamin D requires hepatic 25-hydroxylation of vitamin D. The CYP2R1 gene encodes the principal vitamin D 25-hydroxylase in humans.Objective:This study aimed to determine the prevalence of CYP2R1 mutations in Nigerian children with fam...