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Abdalla, Asmahan T.; Koedam, Marijke; Drop, Sten L.S.; Boot, Annemieke M.; Abdullah, Mohamed A.; van der Eerden, Bram C.J.
Gene, 11/2022, Volume: 844Journal Article
•Two siblings from consaguineous parents with a novel CYP2R1 nutation leads to complete 25(OH)D deficiency.•The first CYP2R1 mutation reported in a Sudanese family and the 6th ever described.•With the high consanguinity rate in the Middle East and Africa, awareness should be elevated for genetic rickets. 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 generated followed by Sanger sequencing on exons 1–5 for both girls and their parents. Homozygosity for a point mutation (c.85C > T) was detected, leading to a nonsynonymous variant at position 29 in exon 1, resulting in a premature stop codon (p.Q29X). This is a previously unknown variant that leads to a severely truncated protein and predicted to be among the 0.1 % most deleterious genomic variants(CADD score 36). To our knowledge, this family represents the first case series from Sudan with a confirmed CYP2R1 gene mutation and the 6th world-wide. With the lack of genetic facilities, diagnosis should be suspected by the persistently low 25 hydroxyvitamin D level in spite of proper treatment and after ruling out liver disease and malabsorption. Patients in this case series showed healing of rickets when treated with high doses of 1,25-dihydroxyvitamin D3 (1,25(OH)D3; calcitriol) and oral calcium.
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