Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 1970 | Pages: 2 - 5 | DOI: 10.24911/ejmcr/2/6
Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report
Authors: Mohammed Al Dubayee , Reem Al Fattouh , Fahad Al Juraibah , Fuad Al Mutairi , Amir Babiker
Article Info
Authors
Mohammed Al Dubayee
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Reem Al Fattouh
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Fahad Al Juraibah
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Fuad Al Mutairi
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Amir Babiker
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Publication History
Received: January 24, 2018
Accepted: February 05, 2018
Published: January 01, 1970
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.
Keywords: CYP27B1 gene, Dependent rickets, 1, 25 dihydroxyvitamin D, 25 hydroxyvitamine D, Vitamin D, case report
