Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

详细信息    查看全文

• 作者：Hongwei Guo (1)
  Jianping Xu (1)
  Hui Xiong (1)
  Shengshou Hu (1)
  
  1. State Key Laboratory of Cardiovascular Disease ; Fuwai Hospital ; National Center for Cardiovascular Diseases ; Chinese Academy of Medical Sciences and Peking Union Medical College ; Beijing ; 100037 ; China
  
• 关键词：Carney complex ; PRKAR1A ; Mutation ; Myxomas
• 刊名：World Journal of Surgical Oncology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：13
• 期：1
• 全文大小：2,112 KB
• 参考文献：1. Horvath, A, Bertherat, J, Groussin, L, Guillaud-Bataille, M, Tsang, K, Cazabat, L (2010) Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat. 31: pp. 369-79 CrossRef
  2. Stratakis, CA, Kirschner, LS, Carney, JA (2001) Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 86: pp. 4041-6 CrossRef
  3. Sandrini, F, Stratakis, C (2003) Clinical and molecular genetics of Carney complex. Mol Genet Metab. 78: pp. 83-92 CrossRef
  4. Rothenbuhler, A, Stratakis, CA (2010) Clinical and molecular genetics of Carney complex. Best Pract Res Clin Endocrinol Metab. 24: pp. 389-99 CrossRef
  5. Bertherat, J (2006) Carney complex (CNC). Orphanet J Rare Dis. 1: pp. 21 CrossRef
  6. Vezzosi, D, Vignaux, O, Dupin, N, Bertherat, J (2010) Carney complex: clinical and genetic 2010 update. Ann Endocrinol (Paris). 71: pp. 486-93 CrossRef
  7. Halaszlaki, C, Takacs, I, Butz, H, Patocs, A, Lakatos, P (2012) Novel genetic mutation in the background of Carney complex. Pathol Oncol Res. 18: pp. 149-52 CrossRef
  
• 刊物主题：Surgical Oncology;
• 出版者：BioMed Central
• ISSN：1477-7819

文摘

Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation.