ArticleThe Journal of clinical endocrinology and metabolism2017
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- Infertility as a possible diagnostic feature of Carney complex.JCEM case reports · 2026Article
- A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.Endocrine oncology (Bristol, England) · 2026Review
- Clinical and Genetic Spectrum of Large AIP Deletions.Human mutation · 2026Article
- From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.Endocrine · 2024Article
- Carney complex with multiple breast tumours including breast cancer: a case report.Oxford medical case reports · 2022Article
- A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.Molecular genetics & genomic medicine · 2022Article
- First SomaticJournal of the Endocrine Society · 2021Article
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- Acromegaly in Carney complex.Pituitary · 2019Review
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
Abstract
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Recently, large germline PRKAR1A deletions have been described and may cause a more severe phenotype. Case Description: Herein, we report the cases of two siblings with CNC with a de novo large deletion of 107 kb at 17q24.2 associated with acromegaly in both and primary pigmented nodular adrenocortical disease, cardiac myxoma, and lethal metastatic melanotic schwannian tumor at the age of 27 years in one of them, supporting the hypothesis that large deletions of PRKAR1A lead to severe disease. Conclusions: To our knowledge, this is the first description of familial CNC in siblings in which neither parent carried the deletion in blood-derived DNA, suggesting that one of them had germ cell mosaicism for this deletion. Testing for large gene deletions should be obtained in all patients who meet the diagnostic criteria for CNC but do not have a PRKAR1A mutation by Sanger sequencing.
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