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Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.

Gene - 30 Nov 2022

Abdalla Asmahan T, Koedam Marijke, Drop Sten L S, Boot Annemieke M, Abdullah Mohamed A, van der Eerden Bram C J

Abstract excerpt

The aim of this study was to identify the genetic basis of two female siblings - born to consanguineous Sudanese parents - diagnosed clinically as having the rare condition of 25-hydroxylase deficiency (vitamin D-dependent rickets type 1B). The initial diagnosis was established based on clinical data, laboratory and radiological findings retrospectively. Primers for all exons (5) of human CYP2R1 (NM_024514) were...

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PMID: 35973571
DOI: 10.1016/j.gene.2022.146809

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