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Title: Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2
Authors: Ghaddhab, Chiraz
Capper, Cameron C
Larrivée-Vanier, Stéphanie
Fayad, Wissam
Olivier, Patricia
Van Vliet, Guy
Auchus, Richard J
Deladoëy, Johnny
Affiliations: Faculty of Medicine 
Faculty of Medicine 
Keywords: CYP11B2
Exome sequencing
In silico studies
In vitro studies
Salt wasting
Issue Date: 2024-02-05
Publisher: National Library Medicine
Part of: Hormone Research in Paediatrics
Introduction Aldosterone synthase deficiency is a rare autosomal recessive disease characterized by vomiting, dehydration, salt wasting, life-threatening hyperkalemia in infancy, followed by failure to thrive. It results from pathogenic variants in CYP11B2. Case Presentation A boy, born in Montreal to Lebanese parents who are first cousins, was referred at nine days of life for severe dehydration. A diagnosis of primary adrenal insufficiency was made, and treatment was started with fludrocortisone and hydrocortisone. Exome sequencing revealed a homozygous variant p.(Asn201Asp)(N201D). In silico, this variant was considered benign, but in vitro functional expression studies established it caused the severe aldosterone deficiency. It ended the diagnostic odyssey and allowed to safely stop hydrocortisone replacement. Conclusion If a gene variant co-segregates with a phenotype, in vitro functional studies are required even if in silico studies are negative.
ISSN: 16632818
DOI: 10.1159/000536437
Type: Journal Article
Appears in Collections:Faculty of Medicine

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