EJMCR. 2018; 2(1): 2-5

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.

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


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


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
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Reem Al Fattouh
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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Fahad Al Juraibah
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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Fuad Al Mutairi
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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Amir Babiker
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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Correspondence to:
Mohammed Al Dubayee. Mohammed Al Dubayee, Department of Pediatrics, King Abdullah Specialized Childrenís Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; m.aldubayee@gmail.com

Publication history
Published online 01 Jan 1970
Received 24 Jan 2018
Accepted 05 Feb 2018
Published in print 20 Feb 2018

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Pubmed Style

Dubayee MA, Fattouh RA, Juraibah FA, Mutairi FA, Babiker A. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. EJMCR. 2018; 2(1): 2-5. doi:10.24911/ejmcr/2/6


Web Style

Dubayee MA, Fattouh RA, Juraibah FA, Mutairi FA, Babiker A. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. http://www.ejmcr.com/?mno=289205 [Access: May 25, 2018]. doi:10.24911/ejmcr/2/6


AMA (American Medical Association) Style

Dubayee MA, Fattouh RA, Juraibah FA, Mutairi FA, Babiker A. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. EJMCR. 2018; 2(1): 2-5. doi:10.24911/ejmcr/2/6


Vancouver/ICMJE Style

Dubayee MA, Fattouh RA, Juraibah FA, Mutairi FA, Babiker A. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. EJMCR. (2018), [cited May 25, 2018]; 2(1): 2-5. doi:10.24911/ejmcr/2/6


Harvard Style

Dubayee, M. A., Fattouh, R. A., Juraibah, F. A., Mutairi, F. A. & Babiker, A. (2018) Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. EJMCR, 2 (1), 2-5. doi:10.24911/ejmcr/2/6


Turabian Style

Dubayee, Mohammed Al, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, and Amir Babiker. 2018. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. European Journal of Medical Case Reports, 2 (1), 2-5. doi:10.24911/ejmcr/2/6


Chicago Style

Dubayee, Mohammed Al, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, and Amir Babiker. "Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report." European Journal of Medical Case Reports 2 (2018), 2-5. doi:10.24911/ejmcr/2/6


MLA (The Modern Language Association) Style

Dubayee, Mohammed Al, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, and Amir Babiker. "Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report." European Journal of Medical Case Reports 2.1 (2018), 2-5. Print. doi:10.24911/ejmcr/2/6


APA (American Psychological Association) Style

Dubayee, M. A., Fattouh, R. A., Juraibah, F. A., Mutairi, F. A. & Babiker, A. (2018) Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. European Journal of Medical Case Reports, 2 (1), 2-5. doi:10.24911/ejmcr/2/6


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