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A Novel Missense PRKAR1A Variant Causes Carney Complex
Boram Kim1,2, Han Na Jang3, Kyung Shil Chae3
1Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Carney complex (CNC) is linked to PRKAR1A gene variants. A novel missense variant was identified, impacting protein kinase A activity and cyclic adenosine monophosphate levels, expanding CNC
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Carney complex (CNC) is an autosomal dominant disorder associated with various tumors.
- Loss-of-function variants in the protein kinase A regulatory subunit 1 alpha (PRKAR1A) gene are primary causes of CNC.
Observation:
- A 21-year-old female patient presented with CNC, acromegaly, and adrenal Cushing syndrome.
- Genetic analysis identified a novel heterozygous missense variant (c.176A>T) in the PRKAR1A gene in the patient and affected relatives.
Findings:
- The novel PRKAR1A variant was found to cause nonsense-mediated mRNA decay.
- In vitro studies confirmed the variant increases protein kinase A activity and cyclic adenosine monophosphate (cAMP) levels.
Implications:
- This discovery expands the known genetic spectrum of Carney complex.
- Recommends PRKAR1A genetic testing and counseling for CNC patients and their families.
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