EJMCR. 2018; 2(January 2018): 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


View PDF
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
PubMed articlesGoogle scholar articles

Reem Al Fattouh
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Fahad Al Juraibah
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Fuad Al Mutairi
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Amir Babiker
Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


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

How to cite this article?

Export to EndNote Export to refMan

Pubmed Style

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


Web Style

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, Amir Babiker. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. http://www.ejmcr.com/?mno=289205 [Access: December 14, 2018]. doi:10.24911/ejmcr/2/6


AMA (American Medical Association) Style

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


Vancouver/ICMJE Style

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, Amir Babiker. Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report. EJMCR. (2018), [cited December 14, 2018]; 2(January 2018): 2-5. doi:10.24911/ejmcr/2/6


Harvard Style

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


Turabian Style

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, 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 (January 2018), 2-5. doi:10.24911/ejmcr/2/6


Chicago Style

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, 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

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, 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.January 2018 (2018), 2-5. Print. doi:10.24911/ejmcr/2/6


APA (American Psychological Association) Style

Mohammed Al Dubayee, Reem Al Fattouh, Fahad Al Juraibah, Fuad Al Mutairi, 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 (January 2018), 2-5. doi:10.24911/ejmcr/2/6


Share this article

Click the icon of the social media platform on which you would like to share this article.

Article Statistics

Viewed: 3012
Downloaded: 511
Cited: 0

Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@ejmcr.com.

Copyright © 2018 Discover Publishing Group. All Rights Reserved.