Key result
Single gene sequencing identifies a novel PRKAR1A mutation confirming Carney complex and enabling early surveillance.
Case Report (n=1)
The identification of a novel pathogenic PRKAR1A mutation in a French-Canadian patient highlights the value of genetic testing for early diagnosis and surveillance of Carney complex.
May support PRKAR1A testing in suspected Carney complex; extends variant spectrum but leaves broader screening implications open.
A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Single gene sequencing confirmed a novel pathogenic mutation in the PRKAR1A gene. This case, to our knowledge, is the first report of this mutation identified in a family of French-Canadian origin. This report broadens our understanding of the genotypic and phenotypic spectrum of this rare disease, while it highlights the value of a multidisciplinary approach in rare diseases, for genetic testing facilitated a timely diagnosis and enabled the initiation of early surveillance of CNC-related manifestations in our patient.
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Gupta et al. (2021) conducted a case report in Carney complex (n=1). Single gene sequencing was evaluated on Identification of a pathogenic mutation. Single gene sequencing identified a novel pathogenic mutation in the PRKAR1A gene in a 39-year-old woman, confirming the diagnosis of Carney complex and enabling early surveillance.
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