{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(6)"],"submitter":["Griffin TP"],"pubmed_abstract":["<h4>Introduction</h4>Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.<h4>Methods</h4>The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.<h4>Results</h4>The proband presented during the second trimester of a planned pregnancy with flu-like "],"journal":["Endocrine connections"],"pagination":["530-541"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7354719"],"repository":["biostudies-literature"],"pubmed_title":["Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes."],"pmcid":["PMC7354719"],"pubmed_authors":["Sayer JA","Islam MN","Gillan JE","Alkanderi S","O'Keeffe DT","Bogdanet D","Griffin TP","Morrison JJ","Bell M","O'Shea PM","Joyce CM","Blake LM","O'Brien T","Dennedy MC"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.","description":"<h4>Introduction</h4>Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.<h4>Methods</h4>The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.<h4>Results</h4>The proband presented during the second trimester of a planned pregnancy with flu-like ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jun","modification":"2025-04-19T11:40:04.976Z","creation":"2025-04-19T11:40:04.976Z"},"accession":"S-EPMC7354719","cross_references":{"pubmed":["32375123"],"doi":["10.1530/EC-20-0150"]}}