ArticleThe Journal of clinical endocrinology and metabolism2014
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 67 citations in OpenAlex.
- The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.The Journal of clinical endocrinology and metabolism · 2025Article
- Pituitary Tumorigenesis-Implications for Management.Medicina (Kaunas, Lithuania) · 2023Review
- Gene Mutations in Cushing's Syndrome.Molecular syndromology · 2023Review
- A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.Molecular genetics & genomic medicine · 2022Article
- The cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway.Frontiers in endocrinology · 2022Review
- Disorders of the adrenal cortex: Genetic and molecular aspects.Frontiers in endocrinology · 2022Review
- First SomaticJournal of the Endocrine Society · 2021Article
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.Endocrine-related cancer · 2020Article
- Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex - Another Rare Component of the Syndrome?Ocular oncology and pathology · 2020Article
- Potential markers of disease behavior in acromegaly and gigantism.Expert review of endocrinology & metabolism · 2020Review
- Acromegaly in Carney complex.Pituitary · 2019Review
- Genetics of Cushing's Syndrome.Endocrinology and metabolism clinics of North America · 2018Review
- Review
- Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.The Journal of clinical endocrinology and metabolism · 2017Article
- Corticotropinoma as a Component of Carney Complex.Journal of the Endocrine Society · 2017Article
- Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis.Endocrine-related cancer · 2017Article
- Skin manifestations of growth hormone-induced diseases.Reviews in endocrine & metabolic disorders · 2016Review
- Pituitary gigantism: update on molecular biology and management.Current opinion in endocrinology, diabetes, and obesity · 2016Review
- MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.Neuroendocrinology · 2016Review
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundCarney complex (CNC) is a multiple neoplasia syndrome caused by PRKAR1A-inactivating mutations. One-third of the patients, however, have no detectable PRKAR1A coding sequence defects. Small deletions of the gene were previously reported in few patients, but large deletions of the chromosomal PRKAR1A locus have not been studied systematically in a large cohort of patients with CNC.
settingA tertiary care referral center was the setting for analysis of an international cohort of patients with CNC.
methodsMethods included genome-wide array analysis followed by fluorescent in situ hybridization, mRNA, and other studies as well as a retrospective analysis of clinical information and phenotype-genotype correlation.
resultsWe detected 17q24.2-q24.3 deletions of varying size that included the PRKAR1A gene in 11 CNC patients (of 51 tested). Quantitative PCR showed that these patients had significantly lower PRKAR1A mRNA levels. Phenotype varied but was generally severe and included manifestations that are not commonly associated with CNC, presumably due to haploinsufficiency of other genes in addition to PRKAR1A.
conclusionsA significant number (21.6%) of patients with CNC that are negative in currently available testing may have PRKAR1A haploinsufficiency due to genomic defects that are not detected by Sanger sequencing. Array-based studies are necessary for diagnostic confirmation of these defects and should be done in patients with unusual and severe phenotypes who are PRKAR1A mutation-negative.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.