scholarly journals Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

2021 ◽  
Vol 62 (6) ◽  
pp. 19
Author(s):  
Yingwei Wang ◽  
Panfeng Wang ◽  
Shiqiang Li ◽  
Jiamin Ouyang ◽  
Xiaoyun Jia ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Macular Dystrophy ◽  
Peripheral Bone

scholarly journals Characterization of fungal and bacterial dysbiosis in young adult Chinese patients with Crohn’s disease

2020 ◽  
Vol 13 ◽  
pp. 175628482097120
Author(s):  
Xinyun Qiu ◽  
Xiaojing Zhao ◽  
Xiufang Cui ◽  
Xiaqiong Mao ◽  
Nana Tang ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Chinese Patients ◽  
Bacterial Composition ◽  
Structural Differences ◽  
Inflammatory Bowel ◽  
Fungal Microbiome ◽  
Chinese Subjects

Intestinal microbiota dysbiosis has been described in inflammatory bowel disease (IBD), but data from China are limited. In this study, we performed molecular analysis of the fecal microbial community from 20 healthy Chinese subjects and 25 patients with Crohn’s disease (CD), and evaluated associations with bacterial and fungal compositions. Decreased richness and diversity of bacterial composition was observed in the CD group compared with healthy (H) subjects. Significant structural differences in bacterial (but not fungal) composition among healthy controls and CD patients were found. A reduction in Firmicutes and Actinobacteria abundance, and overrepresentation of Proteobacteria were observed in the CD patients compared with the H group. The Escherichia-Shigella genus was overrepresented in the CD group, whereas Faecalibacterium, Gemmiger, Bifidobacterium, Romboutsia, Ruminococcus, Roseburia, and Fusicatenibacter abundance were decreased in the CD group compared with H subjects. Differences in fungal microbiota between the H and CD groups were observed at the genus rather than at the phylum level. The Candida genus was overrepresented in the CD (active disease) group compared with the H group, whereas no difference between CD (remission) and H groups was observed. Aspergillus, unclassified_Sordariomycetes, and Penicillium genera had greater representation in the H subjects compared with the CD group. Bacterial and fungal intra- and inter-kingdom correlations were observed between the H and CD groups. Therefore, fecal bacterial and fungal microbiome communities differed considerably between H and CD patients, and between Chinese and Western populations. The role of gut microbiota in homeostasis and in gastrointestinal disorders should be investigated further.

scholarly journals Targeted Next-Generation Sequencing Identifies ABCA4 Mutations in Chinese Families with Childhood-Onset and Adult-Onset Stargardt Disease

2021 ◽  
Author(s):  
Ling-hui Qu ◽  
Xin Jin ◽  
Chao Zeng ◽  
Nian-gou Zhou ◽  
Yan-hong Liu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Variants ◽  
Chinese Patients ◽  
Macular Dystrophy ◽  
Adult Onset ◽  
Next Generation ◽  
Childhood Onset ◽  
Stargardt Disease ◽  
Chinese Families ◽  
Generation Sequencing

Background: Stargardt disease (STGD) is the most common form of juvenile macular dystrophy associated with progressive central vision loss, and is agenetically and clinically heterogeneous disease. Molecular diagnosis is of great significance in aiding the clinical diagnosis, helping to determine the phenotypic severity and visual prognosis. In this study, we determined the clinical and genetic features of seven childhood-onset and three adult-onset Chinese STGD families. We performed capture next generation sequencing (NGS) of the probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes.  Methods: In all, 10unrelated Chinese families were enrolled. Panel based NGS was performed to identify potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes, including the five known STGD genes (ABCA4, PROM1, PRPH2, VMD2 and ELOVL4). Variant analysis, Sanger validation, and segregation tests were utilized to validate the disease-causing mutations inthese families. Results: Using systematic data analysis with an established bioinformatics pipeline and segregation analysis, 17 pathogenic mutations in ABCA4 were identified in the ten STGD families. Four of these mutations were novel: c.371delG, c.681T > G, c.5509C > T and EX37del. Childhood-onset STGD was associated with severe visual loss, generalized retinal dysfunction and was due to more severe variants in ABCA4 than those found in adult-onset disease. Conclusions: We expand the existing spectrum of STGD and reveal the genotype-phenotype relationships of the ABCA4 mutations in Chinese patients. Childhood-onset STGD lies at the severe end of the spectrum of ABCA4-associated retinal phenotypes.

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia

2019 ◽  
Vol 95 (5) ◽  
pp. 637-639
Author(s):  
Yang‐Tian Yan ◽  
Qiao Wei ◽  
Yicen Zheng ◽  
Wen‐Jiao Luo ◽  
Hai‐Lin Dong ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Genetic Characterization ◽  
Chinese Patients ◽  
Spastic Paraplegia
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