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KMID : 1141520220370050810
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Endocrinology and Metabolism
2022 Volume.37 No. 5 p.810 ~ p.815
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A Novel Missense PRKAR1A Variant Causes Carney Complex
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Kim Bo-Ram
Jang Han-Na
Chae Kyung-Shil
Shin Ho-Seop
Kim Yong-Hwy
Kim Su-Jin
Seong Moon-Woo
Kim Jung-Hee
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Abstract
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The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.
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KEYWORD
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Carney complex, PRKAR1A, Missense mutation, Variant, Genetic counseling
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