Study of gene mutation in a Chinese family with Carney's complex

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.