Related Experiment Video

Updated: Aug 16, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.4K

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

Qian Sun1, Jie Song1, Wenjing Feng1

  • 1Departments of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.

Heliyon
|December 20, 2022
PubMed

Insights

Researchers identified a new PDE11A gene mutation causing Carney complex (CNC) in a Chinese family. This finding highlights the importance of genetic testing and managing associated conditions like Cushing's syndrome.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Carney complex (CNC) is a rare genetic disorder associated with multiple endocrine neoplasia.
  • Key genes implicated in CNC include PRKAR1A, PDE8B, and PDE11A.

Purpose of the Study:

  • To characterize the clinical presentation of CNC in a Chinese patient.
  • To identify pathogenic mutations contributing to CNC in a Chinese family.

Main Methods:

  • Genomic DNA was isolated from peripheral blood of a Chinese CNC family.
  • Targeted region sequencing (TRS) and Sanger sequencing were employed for mutation identification and validation.

Main Results:

  • A novel PDE11A variant (NM_016953: exon11: c1921A>G, p.Lys641Glu) was identified and predicted to cause CNC.
  • The identified mutation was also present in the patient's mother, suggesting familial inheritance.

Conclusions:

  • This study reports a new genetic mutation in PDE11A associated with Carney complex.
  • Early detection and management of subclinical Cushing's syndrome in CNC patients are crucial.
Abstract

Keywords:
Adrenal tumorsCarney complexPDE11APrimary pigmented nodular adrenocortical diseaseSubclinical Cushing syndrome

More Related Videos

A Novel Method: Super-selective Adrenal Venous Sampling06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

23.5K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.7K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
31
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
324
GPCRs Regulate Adenylyl Cylase Activity01:09

GPCRs Regulate Adenylyl Cylase Activity

Some GPCRs transmit signals through adenylyl cyclase (AC), a transmembrane enzyme. AC helps synthesize second messenger cyclic adenosine monophosphate (cAMP). AC catalyzes cyclization reaction and converts ATP to cAMP by releasing a pyrophosphate. The pyrophosphate is further hydrolyzed to phosphate by the enzyme pyrophosphatase, which drives cAMP synthesis to completion. However, cAMP is rapidly degraded to 5′ AMP by the enzymes phosphodiesterase (PDE), preventing overstimulation of...
5.8K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
cAMP-dependent Protein Kinase Pathways01:25

cAMP-dependent Protein Kinase Pathways

Cyclic Adenosine Monophosphate (cAMP) is an essential second messenger that activates protein kinase A (PKA) and regulates various biological processes. A single epinephrine molecule binds to GPCR and activates several heterotrimeric G proteins, each stimulating multiple adenylyl cyclase, amplifying the signal, and synthesizing large numbers of cAMP molecules. Small changes in cAMP concentration affect PKA activity. The binding of four cAMP molecules induces a conformational change in PKA,...
6.5K