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Discovery of a Novel PRKAR1A Gene Mutation in a Case of Carney Complex
Guillaud BatailleAbstract
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.
