Carney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation

Carney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation

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 mut...

Full description

Bibliographic Details
Main Authors: Qian Sun, Jie Song, Wenjing Feng, Chengqin Wang, Xuecheng Yang, Mingxin Zhang, Caixia Cao
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Heliyon
Subjects:
Subclinical Cushing syndrome
Carney complex
Primary pigmented nodular adrenocortical disease
Adrenal tumors
PDE11A
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844022033655
Description
Summary: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.
ISSN:2405-8440

Similar Items