Study of gene mutation in a Chinese family with Carney's complex
10.3760/cma.j.issn.1000-6699.2013.07.010
- VernacularTitle:一Carney综合征家系的基因突变研究
- Author:
Yang LIU
;
Liangliang SUN
;
Yanling LIU
;
Xiaoying LI
;
Yongquan SHI
- Publication Type:Journal Article
- Keywords:
Primary pigmented nodular adrenocortical disease;
PRKAR1A gene mutation;
Carney's complex
- From:
Chinese Journal of Endocrinology and Metabolism
2013;29(7):579-583
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify PRKAR1A mutations in a pedigree with Carney's complex through clinical investigation and molecular biology research,and to summarize the genetic law,characteristics,and clinical features of this family disease.Methods The family members received a detailed medical examination and related biochemical tests.The hereditary history and clinical features were recorded.DNAs of 12 family members were extracted from blood and 9 exons and adjacent introns of PRKAR1A were sequenced.Results PRKAR1A mutation intron4 c.440+4 delG was identified in 7 family members,including the proband's patient,who presented special signs of pigmentation on the lips,buccal mucosa,and fingertips.Conclusions The deletion mutation (c.440+4del G) in intron 4 of the PRKAR1A gene was found in this family,which is possibly associated with the phenotype skin pigmentation.