ID 109643
著者
Iwata, T Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
Tamanaha, T Department of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center
Koezuka, R Department of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center
Tochiya, M Department of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center
Makino, H Department of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center
Kishimoto, I Department of Endocrinology and Metabolism, National Cerebral and Cardiovascular Center
Mizusawa, N Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
Ono, S Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School
Inoshita, N Department of Pathology, Toranomon Hospital
Yamada, S Department of Hypothalamic and Pituitary Surgery, Toranomon Hospital
Shimatsu, A Clinical Research Institute, National Hospital Organization Kyoto Medical Center
吉本, 勝彦 Department of Medical Pharmacology, Institute of Health Biosciences, The University of Tokushima Graduate School 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
Carney complex
PRKAR1A
gigantism
large deletion
DNA copy number
資料タイプ
学術雑誌論文
抄録
Objective: The objective was to assess involvement of loss of the PRKAR1A gene encoding a type 1α regulatory subunit of cAMP-dependent protein kinase A located on 17q24 in a Carney complex (CNC)-related pituitary adenoma.
Design: We investigated aberrations of the PRKAR1A gene in a CNC patient with a GH-producing pituitary adenoma, whose family has 3 other members with probable CNC.
Methods: A gene mutation was identified by a standard DNA sequencing method based on PCR. DNA copy number was measured to evaluate allelic loss on 17q24 by quantitative PCR. The breakpoints of deletion were determined by cloning a
rearranged region in the deleted allele.
Results: A PRKAR1A mutation of c.751_758del8 (p.S251LfsX16) was found in genomic DNA obtained from a pituitary adenoma, but not leukocytes from the patient.
Reduced DNA copy number at loci including the PRKAR1A gene on 17q24 was detected in both the tumor and leukocytes, suggesting a deletion at the loci at the germline level. The deletion size was determined to be approximately 0.5 Mb and this large deletion was also found in other 2 family members.
Conclusion: This is the first case showing a CNC-related pituitary adenoma with the combination of somatic mutation and a large inherited deletion of the PRKAR1A gene.
Biallelic inactivation of PRKAR1A may be necessary for the development of CNC-related pituitary adenoma.
掲載誌名
European Journal of Endocrinology
ISSN
08044643
cat書誌ID
AA10991304
172
1
開始ページ
K5
終了ページ
K10
並び順
5
発行日
2015-01-01
備考
© 2015 European Society of Endocrinology
Disclaimer: this is not the definitive version of record of this article.This manuscript has been accepted for publication in European Journal of Endocrinology, but the version presented here has not yet been copy-edited, formatted or proofed. Consequently, Bioscientifica accepts no responsibility for any errors or omissions it may contain. The definitive version is now freely available at DOI: 10.1530/EJE-14-0685 2015.
EDB ID
出典
European Journal of Endocrinology (2015) Vol.172 No.1 K5–K10
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
著者版
部局
歯学系