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Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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 daughter...

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Novel Mutation in PRKAR1A in Carney Complex.

Ko Un Park1, Hyun-Sook Kim, Seung Kwan Lee

  • 1Indiana University School of Medicine, Indianapolis, IN, USA.

Korean Journal of Pathology
|January 17, 2013
PubMed
Summary

This study presents a Korean Carney complex case with skin lesions and myxomas. Genetic analysis identified a novel mutation in the PRKAR1A gene, advancing understanding of this rare condition.

Keywords:
Carney complexPDE11APRKAR1ASuperficial angiomyxoma

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Area of Science:

  • Endocrinology
  • Genetics
  • Dermatology

Background:

  • Carney complex is a rare genetic disorder characterized by spotty skin pigmentation, myxomas, and endocrine and non-endocrine tumors.
  • Previous studies have linked Carney complex to mutations in the PRKAR1A and PDE11A genes.
  • This report details a unique case in a Korean patient, highlighting the need for broader genetic screening.

Purpose of the Study:

  • To present a case of Carney complex in a Korean patient.
  • To conduct comprehensive genetic analysis to identify causative mutations.
  • To contribute to the understanding of Carney complex genetics in diverse populations.

Main Methods:

  • Clinical evaluation including dermatological and family history assessment.
  • Histopathological examination of myxoma tissue.
  • Extensive genetic analysis of PRKAR1A and PDE11A genes using sequencing techniques.

Main Results:

  • The patient exhibited classic Carney complex features: skin lesions, positive family history, and multiple myxomas, including a perianal superficial angiomyxoma.
  • A novel mutation was identified in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene.
  • No mutations were found in the phosphodiesterase type 11A (PDE11A) gene.

Conclusions:

  • This case represents the first extensive genetic study of Carney complex in Korea.
  • The identification of a novel PRKAR1A mutation expands the known mutation spectrum for Carney complex.
  • This finding underscores the importance of genetic testing in diagnosing and managing Carney complex, particularly in underrepresented ethnic groups.