A Novel PRKAR1A Mutation in Korean Carney Complex Family

S. Y. Rhee; H. S. Kwon; J. H. Lee; J.-T. Woo; M. K. Kim; Y. J. Lim; B. A. Rhee; S. H. Koh; S. Lee; M.-H. Lee; D. Y. Kim; S. Chon; S. Oh; S. W. Kim; J.-W. Kim; Y. S. Kim; Y. K. Choi

doi:10.1055/s-0031-1287790

Experimental and Clinical Endocrinology & Diabetes, Table of Contents

Exp Clin Endocrinol Diabetes 2012; 120(01): 7-13
DOI: 10.1055/s-0031-1287790

Article

A Novel PRKAR1A Mutation in Korean Carney Complex Family

S. Y. Rhee

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

H. S. Kwon

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

J. H. Lee

³Department of Pathology, Kyung Hee University School of Medicine, Seoul, Korea

,

J.-T. Woo

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

M. K. Kim

⁴Department of Cardiology, Kyung Hee University School of Medicine, Seoul, Korea

,

Y. J. Lim

⁵Department of Neurosurgery, Kyung Hee University School of Medicine, Seoul, Korea

,

B. A. Rhee

⁵Department of Neurosurgery, Kyung Hee University School of Medicine, Seoul, Korea

,

S. H. Koh

⁶Department of General Surgery, Kyung Hee University School of Medicine, Seoul, Korea

,

S. Lee

³Department of Pathology, Kyung Hee University School of Medicine, Seoul, Korea

,

M.-H. Lee

⁷Department of Dermatology, Kyung Hee University School of Medicine, Seoul, Korea

,

D. Y. Kim

⁸Department of Nuclear Medicine, Kyung Hee University School of Medicine, Seoul, Korea

,

S. Chon

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

S. Oh

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

S. W. Kim

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

J.-W. Kim

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

Y. S. Kim

¹Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea

²Research Institute of Endocrinology, Kyung Hee University, Seoul, Korea

,

Y. K. Choi

⁹Department of Endocrinology and Metabolism, CHA University College of Medicine, Seoul, Korea

› Author Affiliations

Abstract

Carney complex (CNC) is an autosomal dominant hereditary or sporadic multiple neoplastic syndrome that shows variable clinical symptoms. Generally, CNC appears as skin pigmentation, cardiac or cutaneous myxomas, and multiple endocrine tumours. We performed an extensive evaluation of 9 individuals within 1 family in whom CNC was suspected. Among them, 5 had CNC with various clinical manifestations. We also performed mutational analysis of suspected genes in these patients. Although all patients were members of the same family, variable CNC-related manifestations were observed in each patient. An analysis showed a novel deletion mutation (c.537delA) in exon 6 of the PRKAR1A gene in the patients. Based on our results, the patients were determined to have CNC type I. This is the first such mutational report in Korea.

Key words

cyclic-AMP-dependent protein kinase RIalpha subunit - myxoma - thyroid neoplasm

Full Text

References

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