Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene

2019 ◽  
Vol 60 ◽  
pp. 164-166 ◽  
Author(s):  
Zhenhua Yuan ◽  
Lina Guo ◽  
Xixi Liu ◽  
Xuewen Xiao ◽  
Bin Jiao ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Mainland China ◽  
Familial Amyloid Polyneuropathy ◽  
Chinese Family ◽  
Heterozygous Missense Mutation ◽  
Amyloid Polyneuropathy

scholarly journals Identification of a Novel Heterozygous Missense Mutation in theCACNA1FGene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Qi Zhou ◽  
Jingliang Cheng ◽  
Weichan Yang ◽  
Mousumi Tania ◽  
Hui Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Clinical Signs ◽  
Chinese Family ◽  
Next Generation ◽  
Heterozygous Missense Mutation ◽  
Peripheral Leukocytes ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Background.Retinitis pigmentosa (RP) is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP) in a Chinese family.Methods.A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS).Results.The affected individual presented the clinical signs of XLRP. A heterozygous missense mutation (c.1555C>T, p.R519W) was identified by NGS in exon 13 of theCACNA1Fgene on X chromosome, and was confirmed by Sanger sequencing. It showed perfect cosegregation with the disease in the family. The mutation at this position in theCACNA1Fgene of RP was found novel by database searching.Conclusion.By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W) inCACNA1Fgene, which is probably associated with XLRP. The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.

Type I familial amyloid polyneuropathy in a Chinese family

1989 ◽  
Vol 79 (5) ◽  
pp. 391-396 ◽  
Author(s):  
C. M. Chang ◽  
Y. L. Yu ◽  
M. Wong ◽  
T. H. K. Ng ◽  
E. Woo ◽  
...  
Keyword(s):  
Familial Amyloid Polyneuropathy ◽  
Chinese Family ◽  
Type I ◽  
Amyloid Polyneuropathy

scholarly journals Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

Eye ◽  
2013 ◽  
Vol 28 (1) ◽  
pp. 26-33 ◽  
Author(s):  
T Liu ◽  
B Zhang ◽  
X Jin ◽  
W Wang ◽  
J Lee ◽  
...  
Keyword(s):  
Familial Amyloid Polyneuropathy ◽  
Chinese Family ◽  
Ophthalmic Manifestations ◽  
Amyloid Polyneuropathy

A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy

2017 ◽  
Vol 55 (6) ◽  
pp. 4911-4917 ◽  
Author(s):  
Qian Chen ◽  
Lamei Yuan ◽  
Xiong Deng ◽  
Zhijian Yang ◽  
Shengwang Zhang ◽  
...  
Keyword(s):  
Missense Variant ◽  
Familial Amyloid Polyneuropathy ◽  
Han Chinese ◽  
Chinese Family ◽  
Amyloid Polyneuropathy
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