Key result
Novel PRKAR1A mutation identified in a Carney complex patient whose symptoms resolved after left adrenalectomy.
Why the study?
The study was conducted to investigate the clinical features, diagnosis, and treatment of new pathogenic PRKAR1A mutations causing Carney complex.
Case Report (n=1)
No
The identification of a novel PRKAR1A gene mutation (c.1-2942G>A) expands the genetic spectrum of Carney complex and highlights the importance of early genetic screening for timely intervention.
Supports PRKAR1A testing in suspected PPNAD; leaves open optimal diagnostic and therapeutic algorithms.
Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting in a pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of PPNAD and CNC, a search for PRKAR1A mutations may be recommended in addition to hormonal and imaging tests. The purpose of this study was to investigate the clinical features, diagnosis and treatment of the new pathogenic mutations in the PRKAR1A gene causing Carney complex. Methods We report here a case of a patient whose clinical data were retrospectively analyzed. Results The 13-year-old patient was diagnosed with Carney complex through a series of tests and a new causative gene mutation locus (C.1-2942G>A) was identified. Conclusion Carney complex is usually more difficult to be diagnosed at an early stage in the clinic, and it is beneficial for clinicians to raise awareness of the disease for early recognition and timely intervention.
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Ding et al. (2021) conducted a case report in Carney Complex (n=1). PRKAR1A gene mutation (c.1-2942G>A) was evaluated on Identification of genetic mutation and clinical outcome. A novel pathogenic mutation in the PRKAR1A gene (c.1-2942G>A) was identified in a 13-year-old boy with Carney complex, whose symptoms resolved after left adrenalectomy.
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