Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families

CORC > 昆明动物研究所 > 昆明动物研究所 > 动物模型与人类重大疾病机理重点实验室 > 重大疾病机理的遗传学

	Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families
	Zhang AM 1; Wang H 2; Sun P 2; Hu QX 1,3; He YQ 2; Yao YG[*]1
刊名	MOLECULAR VISION
	2013
卷号	19 期号:X 页码:1631-1638
通讯作者	yaoyg@mail.kiz.ac.cn
合作状况	其它
英文摘要	Purpose: Hereditary vitreous amyloidosis (HVA) is a genetic ophthalmological disorder. The purpose of this study was to investigate whether a mutation in the transthyretin (TTR) gene is associated with HVA in Han Chinese families. Methods: We performed clinical evaluation of three Han Chinese families with HVA and sequenced the entire exon of the TTR gene in probands and normal individuals from the families. The identified mutation was further genotyped in 196 unrelated healthy controls. Evolutionary conservation analysis and structural prediction were used to infer the potential pathogenicity of the mutation. Results: Clinical penetrance of HVA varied in the three families (11/30 in Family A, 8/83 in Family B, and 7/47 in Family C). A comprehensive medical examination of the patients showed no signs of abnormality except ophthalmologic symptoms, in which floccular turbidity and high echo in both vitreous bodies were observed in all probands. Further histochemical examination of the vitrectomy specimen with Congo red staining identified amyloid deposits. A heterozygous mutation c.307G>C (p.G83R) in exon 3 of the TTR gene was identified in all patients, but not in some unaffected family members. Screening of 196 unrelated normal controls revealed no presence of this mutation. This mutation changed the highly conserved glycine to arginine in the 83rd position and altered the tertiary structure of the TTR protein. Conclusions: Mutation p.G83R in the TTR protein is associated with HVA in Chinese families. The seemingly specific distribution of this mutation in Han Chinese may be used for clinical diagnosis.
收录类别	SCI
资助信息	This study was supported by the National Natural Science Founda- tion of China (30925021 and 81200725), Yunnan Province (2009CI119).
语种	英语
WOS记录号	WOS:000322258700003
公开日期	2013-08-27
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/7594]
专题	昆明动物研究所_重大疾病机理的遗传学昆明动物研究所_动物模型与人类重大疾病机理重点实验室
作者单位	1.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 2.Kunming Aier Eye Hospital, Kunming, Yunnan, China 3.University of Chinese Academy of Sciences, Beijing, China
推荐引用方式 GB/T 7714	Zhang AM,Wang H,Sun P,et al. Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families[J]. MOLECULAR VISION,2013,19(X):1631-1638.
APA	Zhang AM,Wang H,Sun P,Hu QX,He YQ,&Yao YG[*].(2013).Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.MOLECULAR VISION,19(X),1631-1638.
MLA	Zhang AM,et al."Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families".MOLECULAR VISION 19.X(2013):1631-1638.