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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
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Journal Article
ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
2018
Overview
To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. PBMAH family members with ARMC5 pathogenic germline mutations displayed various clinical manifestations. ARMC5 pathogenic germline mutations were identified in 5 sporadic PBMAH patients among whom one patient displayed both hypercortisolism and primary aldosteronism. We detected a total of 10 ARMC5 pathogenic mutations, of which 8 had not been previously reported. Our results suggest that ARMC5 pathogenic germline mutations are common in familial and sporadic Chinese PBMAH patients, and demonstrate the importance of ARMC5 screening in PBMAH family members to detect patients with insidious PBMAH.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
/ Adrenal Hyperplasia, Congenital - genetics
/ Adrenal Hyperplasia, Congenital - metabolism
/ Adult
/ China
/ Female
/ Genes
/ Germ-Line Mutation - genetics
/ Hormones
/ Humans
/ Male
/ Medicine and Health Sciences
/ Mutation
/ Nodules
/ Research and Analysis Methods
/ Tumor Suppressor Proteins - genetics
/ Tumor Suppressor Proteins - metabolism
/ Urology
