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Case Report

. 2018; 2(1): 2-5


Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report

Mohammed Al Dubayee; Reem Al Fattouh; Fahad Al Juraibah; Fuad Al Mutairi; Amir Babiker.

Abstract
Background: Vitamin D is a vital hormone in preserving calcium and phosphorus homeostasis in the body and maintaining normal growth and mineralization of bones.
Case Presentation: We identified a patient with vitamin D dependent rickets type 1A (VDDR1A). This patient had rachitic skeletal manifestations, macrocephaly, retarded motor development, hypocalcemia, hypophosphatemia, markedly elevated alkaline phosphatase, and secondary hyperparathyroidism associated with normal 25 hydroxyvitamin D [25(OH)D] and low 1,25-dihydroxyvitamin D [1,25(OH)2D]. These biochemical abnormalities are consistent with the diagnosis of VDDR1A. Molecular analysis of CYP27B1 gene revealed novel homozygous mutation “Gly125Arg”. Unaffected parents were heterozygous carriers.
Conclusion: It is highly suggestive that “Gly125Arg” is the molecular defect causing this disease in our patient. Gly125Arg is likely to be a pathogenic mutation that leads to VDDR1A.

Key words: CYP27B1 gene;Dependent rickets;1;25 dihydroxyvitamin D;25 hydroxyvitamine D;Vitamin D;case report



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