Title |
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report
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Published in |
BMC Research Notes, November 2014
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DOI | 10.1186/1756-0500-7-783 |
Pubmed ID | |
Authors |
Amir MI Babiker, Iman Al Gadi, Nasir AM Al-Jurayyan, Abdulrahman MH Al Nemri, AliAbdu N Al haboob, Ahmed Amer Al Boukai, Ali Al Zahrani, Hanan Ahmed Habib |
Abstract |
Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1alpha-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. |
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