Identification of novel genetic variants in phosphodiesterase 8B ( PDE8B ), a cAMP ‐specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours
Open accessAbstract
BACKGROUND: Genetic aberrations in various components of cAMP signalling pathway predispose to endocrine tumours. Mutations in the phosphodiesterases (PDEs) are involved in the predisposition to adrenocortical neoplastic conditions. OBJECTIVE: To screen for genetic variations in PDE8B among patients with different types of adrenocortical tumours. DESIGN AND SUBJECTS: This is a case-control study followed by functional analyses. Two hundred and sixteen unrelated patients with different types of adrenocortical tumours and 192 healthy control individuals participated in the study. METHODS: Bidirectional Sanger sequencing, in vitro cell line transfection and in silico modelling are used in this study. RESULTS: Nine different PDE8B sequence changes, six novel and three previously reported, were identified in our patients and controls. Two of the variations, seen only in the patient group, showed significant potential to impair protein function, both in vitro and in silico. CONCLUSION: PDE8B is another PDE gene in which variations may contribute to predisposition of adrenocortical tumours.
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Mutations in PDE11A and PDE8B are the most commonly reported phosphodiesterase mutations in cortisol-producing adrenocortical adenomas.
“Mutations in PDE11A and PDE8B genes are the most commonly reported (149,150).”
From Adrenal incidentaloma (2020) · cites this paper as [150]
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“Mutations in PDE11A and PDE8B genes are the most commonly reported (149,150).”
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- Authors
- Rothenbuhler, A., Horvath, A., Libé, R., Faucz, F. R., Fratticci, A., Raffin Sanson, M. L., Vezzosi, D., Azevedo, M., Levy, I., Almeida, M. Q., Lodish, M., Nesterova, M., Bertherat, J., & Stratakis, C. A.
- Affiliations
- Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program both at the Program on Developmental Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA
- Centre National de la Recherche Scientifique (FR)
- National Institutes of Health (US)
- Institut National de la Santé et de la Recherche Médicale Unité 1016 Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104 Department of Endocrinology, Metabolism and Cancer Institut Cochin
- Corresponding author
- Stratakis, Constantine A.
- ORCID
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2012-07-10
- Volume
- 77
- Issue
- 2
- Pages
- 195-199
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- PMC
- PMC3360985
- OpenAlex
- W2067621615
- Cited by
- 96
- References
- 16
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 7 · 2023: 4 · 2022: 11 · 2021: 2 · 2020: 9 · 2019: 5 · 2018: 8 · 2017: 5 · 2016: 10 · 2015: 9 · 2014: 8 · 2013: 2 · 2012: 3
- FWCI
- 7.18
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIAHD000642, Z01HD000642)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Phosphodiesterase function and regulation
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- PDE8B, cAMP signaling, adrenocortical tumors, adrenal cortex, genetic variants, novel mutations, genetic susceptibility
- MeSH terms
- Adrenal Cortex, Adrenal Gland Neoplasms, Female, Humans, Male, Genetic Variation, 3',5'-Cyclic-AMP Phosphodiesterases, Case-Control Studies, Genetic Predisposition to Disease, Reverse Transcriptase Polymerase Chain Reaction
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