Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

ContextVitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the CYP27B1 gene. CYP27B1 encodes an enzyme of 25-hydroxyvitamin D-1α-hydroxylase for converting inactive 25-OHD to biologically active 1,25-(OH)2D.ObjectiveTo...

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Bibliographic Details
Main Authors: Minjing Zou, Ayla Guven, Huda A. BinEssa, Roua A. Al-Rijjal, Brian F. Meyer, Ali S. Alzahrani, Yufei Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
CYP27B1 mutation
1α-hydroxylase
vitamin D
rickets
RNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.607517/full

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