scholarly journals Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 58 (13) ◽  
pp. 5949 ◽  
Author(s):  
Miao Tang ◽  
Limei Sun ◽  
Andina Hu ◽  
Miner Yuan ◽  
Yu Yang ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Chinese Patients ◽  
Familial Exudative Vitreoretinopathy

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

2015 ◽  
Vol 11 (4) ◽  
pp. 358-365 ◽  
Author(s):  
Lian-Shu Han ◽  
Zhuo Huang ◽  
Feng Han ◽  
Jun Ye ◽  
Wen-Juan Qiu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Features ◽  
Methylmalonic Acidemia ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Allelic Variants ◽  
Mut Gene

scholarly journals Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship

Haematologica ◽  
2013 ◽  
Vol 98 (12) ◽  
pp. e158-e160 ◽  
Author(s):  
G. Liu ◽  
S. Guo ◽  
H. Kang ◽  
F. Zhang ◽  
Y. Hu ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Chinese Patients ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

2013 ◽  
Vol 37 (3) ◽  
pp. 399-404 ◽  
Author(s):  
Jianying Xi ◽  
Bing Wen ◽  
Jie Lin ◽  
Wenhua Zhu ◽  
Sushan Luo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Mutation Spectrum ◽  
Chinese Patients

scholarly journals Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

2016 ◽  
Vol 129 (19) ◽  
pp. 2287-2293 ◽  
Author(s):  
Su-Qin Jin ◽  
Meng Yu ◽  
Wei Zhang ◽  
He Lyu ◽  
Yun Yuan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Large Cohort ◽  
Mutation Spectrum ◽  
Chinese Patients

scholarly journals P3.03-08 Analysis of ESR1 Mutation Spectrum from Non-Small-Cell Lung Cancer in Chinese Patients

2018 ◽  
Vol 13 (10) ◽  
pp. S913
Author(s):  
C. Xu ◽  
W. Wang ◽  
Q. Zhang ◽  
W. Zhuang ◽  
Y. Zhu ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Small Cell Lung Cancer ◽  
Cell Lung Cancer ◽  
Small Cell ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Small Cell Lung ◽  
Esr1 Mutation

scholarly journals Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Keqiang Liu ◽  
Wenshuai Xu ◽  
Xinlun Tian ◽  
Meng Xiao ◽  
Xinyue Zhao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Spontaneous Pneumothorax ◽  
Mutation Screening ◽  
Skin Lesions ◽  
Mrna Splicing ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Lung Cysts ◽  
Splicing Pattern

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Methods We enrolled 47 patients from 39 unrelated families with symptoms highly suggestive of BHDS after informed consent and detailed clinical data were collected. Exon sequencing followed by multiplex ligation-dependent probe amplification testing were applied for mutation screening. The effects of non-truncating mutations, including 15 missense mutations and 6 in-frame deletions, on mRNA splicing were investigated by minigene assays. Results A total of 24 FLCN germline variants were found in 39 patients from 31 distinct families. Out of these patients, 100% (36/36) presented with lung cysts and 58.3% (21/36) had experienced spontaneous pneumothorax. Seventeen mutation carriers had skin lesions (47.2%, 17/36) and 9 (30%, 9/30) had kidney lesions including 8 with renal cysts and 1 with renal hamartoma. Among all detected variants 14 (58.3%, 14/24) were novel, including 11 variants classified to be pathogenic and 3 variants of uncertain significance. None of 21 non-truncating mutations changed the mRNA splicing pattern of minigenes. Conclusions We found different clinical features of Chinese BHDS patients compared with Caucasians, with more lung cysts and pneumothorax but fewer skin lesions and malignant renal cancer. Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product.

scholarly journals Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 58 (5) ◽  
pp. 2623 ◽  
Author(s):  
Feng-Qin Rao ◽  
Xue-Bi Cai ◽  
Fei-Fei Cheng ◽  
Wan Cheng ◽  
Xiao-Long Fang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Familial Exudative Vitreoretinopathy

Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy

2013 ◽  
Vol 112 (4) ◽  
pp. 585-589 ◽  
Author(s):  
Wen Liu ◽  
Wenling Liu ◽  
Dayi Hu ◽  
Tiangang Zhu ◽  
Zhanfeng Ma ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Large Cohort ◽  
Mutation Spectrum ◽  
Chinese Patients
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