Dataset Information
Carney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation.
Ontology highlight
ABSTRACT: Background
Several disease-causing genes have been implicated in Carney complex (CNC), including PRKAR1A, PDE8B(Phosphodiesterase 8B),and PDE11A (Phosphodiesterase 11A). The purpose of this study was to describe the clinical features of CNC in a Chinese patient and identify potential pathogenic mutations.Methods
Genomic DNA was extracted from the peripheral venous blood obtained from one Chinese CNC family from Shandong province. Subsequently, targeted region sequencing (TRS) and Sanger sequencing validation were performed to identify and validate likely pathogenic mutations.Results
Genetic analyses revealed a novel PDE11A variant that was predicted to lead to CNC. The patient's mother presented with the same genetic mutation.Conclusion
This study identifies new genetic mutation in CNC（PDE11A: NM_016953: exon11: c1921A>G (p./p.Lys641Glu). CNC patients presenting with subclinical Cushing's syndrome should be treated.
SUBMITTER: Sun Q
PROVIDER: S-EPMC9758402 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Carney complex presenting as subclinical Cushing syndrome in a child due to a novel <i>Phosphodiesterase 11A</i> mutation.
Heliyon 20221208 12
<h4>Background</h4>Several disease-causing genes have been implicated in Carney complex (CNC), including <i>PRKAR1A</i>, <i>PDE8B</i>(Phosphodiesterase 8B),and <i>PDE11A</i> (Phosphodiesterase 11A). The purpose of this study was to describe the clinical features of CNC in a Chinese patient and identify potential pathogenic mutations.<h4>Methods</h4>Genomic DNA was extracted from the peripheral venous blood obtained from one Chinese CNC family from Shandong province. Subsequently, targeted region ...[more]