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Discovery of a Novel PRKAR1A Gene Mutation in a Case of Carney Complex

Clinical and Molecular Genetics Unit, UCL  Institute of Child Health, London, UK

Keywords

Carney complex; Cushing's syndrome; PPNAD; PRKAR1A

Abstract

The primary objective of this study is to explore the clinical manifestations, diagnostic procedures, and therapeutic approaches concerning novel pathogenic  mutations in the PRKAR1A gene, which lead to Carney complex. 

Methods: We present a retrospective analysis of clinical data pertaining to a single  patient. Results: In this study, we detail the case of a 13-year-old patient diagnosed with  Carney complex. Through comprehensive testing, including genetic analysis, a  new mutation locus (C.1-2942G>A) in the PRKAR1A gene was identified as the  causative factor. 

Conclusion: Diagnosing Carney complex can pose challenges in clinical settings,  often leading to delayed recognition. Hence, it is imperative for healthcare  professionals to enhance their understanding of this condition for early detection  and timely intervention.

The primary objective of this study is to explore the clinical manifestations,  diagnostic procedures, and therapeutic approaches concerning novel pathogenic  mutations in the PRKAR1A gene, which lead to Carney complex. 

Methods: We present a retrospective analysis of clinical data pertaining to a single  patient. Results: In this study, we detail the case of a 13-year-old patient diagnosed with  Carney complex. Through comprehensive testing, including genetic analysis, a  new mutation locus (C.1-2942G>A) in the PRKAR1A gene was identified as the  causative factor. 

Conclusion: Diagnosing Carney complex can pose challenges in clinical settings,  often leading to delayed recognition. Hence, it is imperative for healthcare  professionals to enhance their understanding of this condition for early detection  and timely intervention.

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