Article
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Journal of clinical research in pediatric endocrinology - 11 Mar 2024
Garrelfs Mark R., Rinne Tuula, Hillebrand Jacquelien J., Lauffer Peter, Bijlsma Merijn W., Claahsen-van der Grinten Hedi L, de Leeuw Nicole, Finken Martijn J. J., Rotteveel Joost, Zwaveling-Soonawala Nitash, Nieuwdorp Max, van Trotsenburg A. S. Paul, Mooij Christiaan F.
Abstract excerpt
Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8:NM_000498.3:c.400G>A p.(Gly134Arg). The patient presented shortly after birth with severe signs of aldosterone deficiency....
Topics
- Infant, Newborn
- Humans
- Cytochrome P-450 CYP11B2
- Aldosterone
- Hypoaldosteronism
- Phenotype