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Clinical exome sequencing facilitates the understanding of genetic heterogeneity in leber congenital amaurosis patients with variable phenotype in southern India

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Eye and Vision 2021年第1期8卷 192-202页

作者： Sriee Viswarubhiny Rupa Anjanamurthy Ayyasamy Vanniarajan Devarajan Bharanidharan Vijayalakshmi Perumalsamy Periasamy Sundaresan Department of Molecular Genetics Aravind Medical Research FoundationAravind Eye HospitalMaduraiTamil Nadu 625020India Department of Molecular Biology Aravind Medical Research Foundation-Affiliated to Alagappa UniversityKaraikudiTamil NaduIndia Department of Paediatric and Adult strabismus Aravind Eye HospitalMaduraiTamil NaduIndia Department of Bioinformatics Aravind Medical Research FoundationAravind Eye HospitalMaduraiTamil NaduIndia

Background:leber congenital amaurosis(LCA),primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy(IRD)responsible for congenital *** presence of phenotypic heterogeneity makes the diagnosis of LCA challenging,especially in the absence of pronounced disease pathognomonic,yet it can be well comprehended by employing molecular ***,the present study aimed to reveal the causative mutations in ten LCA patients with variable phenotypes using clinical exome sequencing(CES).Methods:CES was performed in ten unrelated LCA *** information and family history of all patients were obtained to make a meaningful *** clinical exome data was analyzed and prioritized using a bioinformatics pipeline to identify mutations,which was further validated by Sanger *** analysis was also performed on available family ***:CES led to the identification of causative mutations in nine LCA *** patients harbored a mutation in six LCA candidate genes,including RPE65,LCA5(n=2),CRX,PRPH2,CEP290,and ALMS1,while two patients possess a mutation in IFT80 and RP1,known to cause other *** novel mutations in LCA5(c.1823del),CRX(c.848del)and CEP290(c.2483G>T)were *** current study reports for the first time,a mutation in PRPH2,CEP290,and ALMS1 from the Indian ***,we observed a novel association of LCA phenotype with IFT80 known to cause Jeune *** on the genetic finding,the patient AS09,who harbored a mutation in the RP1 gene,was re-diagnosed with early-onset retinitis ***:In conclusion,the results underline the importance of CES in clinically diagnosed LCA patients with variable *** correlation between mutations in candidate genes and clinical phenotypes,helps to refine the clinical ***,molecular evaluation with a larger cohort of LCA patients is needed for better understa

关键词： leber congenital amaurosis Clinical exome sequencing Southern India Molecular diagnosis Genotype-phenotype correlation

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Publication trends of leber congenital amaurosis researches:a bibliometric study during 2002-2022

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1501-1509页

作者： Xiao-Xu Huang Yi-Min Wang Min-Yue Xie Yi-Qing Sun Xiao-Huan Zhao Yu-Hong Chen Jie-Qiong Chen Si-Yang Han Min-Wen Zhou Xiao-Dong Sun Department of Ophthalmology Shanghai General HospitalShanghai Jiao Tong University School of MedicineShanghai 200080China National Clinical Research Center for Eye Disease Shanghai 200080China Shanghai Key Laboratory of Ocular Fundus Diseases Shanghai 200080China Shanghai Engineering Center for Visual Science and Photomedicine Shanghai 200080China Department of Ophthalmology Zhongshan HospitalFudan UniversityShanghai 200030China Beijing Tongren Hospital Capital Medical UniversityBeijing 100054China Eberly College of Science Penn State UniversityUniversity Park 16802-1503United States

AIM:To analyze the changes in scientific output relating to leber congenital amaurosis(LCA)and forecast the study trends in this ***:All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science(WOS)*** analyzed the quantity(number of publications),quality(citation and H-index)and development trends(relative research interest,RRI)of published LCA research over the last two ***,VOSviewer software was applied to define the co-occurrence network of keywords in this ***:A total of 2158 publications were ultimately *** found that the focus on LCA kept rising and peaked in 2015 and 2018,which is consistent with the development trend of gene *** USA has contributed most to this field with 1162 publications,56674 citations and the highest H-index value(116).The keywords analysis was divided into five clusters to show the hotspots in the field of LCA,namely mechanism-related,genotype-related,local phenotype-related,system phenotype-related,and *** also identified gene therapy and antiretinal degeneration therapy as a major focus in recent ***:Our study illustrates historical research process and future development trends in LCA *** may help to guide the orientation for further clinical diagnosis,treatment and scientific research.

关键词： VOSviewer bibliometrics leber congenital amaurosis gene therapy hotpots

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Comprehensive analysis of genetic variations in strictly-defined leber congenital amaurosis with whole-exome sequencing in Chinese

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International Journal of Ophthalmology(English edition) 2016年第9期9卷 1260-1264页

作者： Shi-Yuan Wang Qi Zhang Xiang Zhang Pei-Quan Zhao Department of Ophthalmology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

AIM：To make a comprehensive analysis of the potential pathogenic genes related with leber congenital amaurosis（LCA） in ***：LCA subjects and their families were retrospectively collected from 2013 to ***,whole-exome sequencing was performed in patients who had underwent gene mutation screening with nothing found,and then homozygous sites was selected,candidate sites were annotated,and pathogenic analysis was conducted using softwares including Sorting Tolerant from Intolerant（SIFT）,Polyphen-2,Mutation assessor,Condel,and Functional Analysis through Hidden Markov Models（FATHMM）.Furthermore,Gene Ontology function and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses of pathogenic genes were performed followed by co-segregation analysis using Fisher exact *** sequencing was used to validate single-nucleotide variations（SNVs）.Expanded verification was performed in the rest ***：Totally 51 LCA families with 53 patients and24 family members were recruited.A total of 104 SNVs（66 LCA-related genes and 15 co-segregated genes）were submitted for expand *** frequencies of homozygous mutation of KRT12 and CYP1A1 were simultaneously observed in 3 *** analysis showed that the potential pathogenic genes were mainly enriched in functions related to cell adhesion,biological adhesion,retinoid metabolic process,and eye development biological ***,WFS7 and STAU2 had the highest homozygous ***：LCA is a highly heterogeneous *** in KRT12,CVP1A1,WFS1,and STAU2 may be involved in the development of LCA.

关键词： leber congenital amaurosis whole-exome sequencing targeted next-generation sequencing

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Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12(RDH12) compound heterozygous variants in a Chinese family with leber congenital amaurosis

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2017年第5期18卷 421-429页

作者： Yun LI Qing PAN Yang-shun GU Department of Ophthalmology the First Affiliated Hospital College of Medicine Zhejiang University Department of Ophthalmology Zhejiang Provincial People's Hospital

Background： leber congenital amaurosis （LCA） is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiology. This study is to identify gene variants responsible for LCA in a Chinese family using direct Sanger sequencing, with the help of phenotype-genotype correlations. Methods： A Chinese family with six members including two individuals affected with *** was studied. All pa- tients underwent a complete ophthalmic examination. Based on phenotype-genotype correlation, direct Sanger sequencing was performed to identify the candidate gene on all family members and normal controls. Targeted next-generation sequencing was used to exclude other known LCA genes. Results： By Sanger sequencing, we identified two novel missense variants in the retinol dehydrogenase 12 （RDH12） gene： a c. 164C〉A transversion predicting a p.T55K substitution, and a c.535C〉G transversion predicting a p.H179D substitution. The two affected subjects carried both RDH12 variants, while their parents and offspring carried only one of heterozygous variants, showing complete cosegregation of the variants. The compound heterozygous variants were not present in 600 normal controls Besides, the RDH12 variants were confirmed by targeted next-generation sequencing. Conclusions： The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA.

关键词： leber congenital amaurosis Phenotvpe-qenotvpe correlation RDH12 Compound heterozy.qosity

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A Gene Scan Study of RPE65 in Chinese Patients with leber congenital amaurosis

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Chinese Medical Journal 2017年第22期130卷 2709-2712页

作者： Jing Liu Juan Bu Eye Department Peking University Third Hospital Beijing Key Laboratory of Restoration of Damaged Ocular Nerve Beijing 100191 China

Background： leber congenital anaaurosis （LCA） is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. Methods： We recruited 52 sporadic patients from Peking University Third Hospital in 2016 and applied Sanger sequencing to identil＇y variants among exons responsible for the disease. The genomic DNAs from blood leukocytes of these patients were isolated, and tile entire coding region of the RPE65 gene was amplified by polymerase chain reaction. We then deterrnined the sequence of RPE65 using ABI 3100 Genetic Analyzer. Results： Our study identified that only 1 out of the 52 patients with LCA carried the previously unreported homozygosis missense mutation c1174A〉C （T392P） of the RPE65 gene. However, the mutation was associated with the disease phenotype and not detected in 100 normal controls. Conclusions： Though we identified a novel missense mutation in the RPE65 gene that causes LCA, our result indicates that RPE65 mutations may not play a major role in the LCA patients in China since only 1 out of the 52 patients carried mutation in the RPE65 gene.

关键词： leber congenital amaurosis Mutation RPE65

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Applications of CRISPR/Cas9 in retinal degenerative diseases

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International Journal of Ophthalmology(English edition) 2017年第4期10卷 646-651页

作者： Ying-Qian Peng Luo-Sheng Tang Shigeo Yoshida Ye-Di Zhou Department of Ophthalmology the Second Xiangya HospitalCentral South University Department of Ophthalmology Kyushu University Graduate School of Medical Sciences

Gene therapy is a potentially effective treatment for retinal degenerative *** regularly interspaced short palindromic repeats（CRISPR）/CRISPR-associated protein 9（Cas9） system has been developed as a new genome-editing tool in ophthalmic *** advances in researches showed that CRISPR/Cas9 has been applied in generating animal models as well as gene therapy in vivo of retinitis pigmentosa（RP） and leber congenital amaurosis（LCA）.It has also been shown as a potential attempt for clinic by combining with other technologies such as adeno-associated virus（AAV） and induced pluripotent stem cells（i PSCs）.In this review,we highlight the main points of further prospect of using CRISPR/Cas9 in targeting retinal *** also emphasize the potential applications of this technique in treating retinal degenerative diseases.

关键词： CRISPR/Cas9 gene therapy genome editing retinal degeneration retinitis pigmentosa leber congenital amaurosis

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Retinal imaging in inherited retinal diseases

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Annals of Eye Science 2020年第3期5卷 30-49页

作者： Michalis Georgiou Kaoru Fujinami Michel Michaelides UCL Institute of Ophthalmology University College LondonLondonUK Moorfields Eye Hospital NHS Foundation Trust LondonUK Laboratory of Visual Physiology Division of Vision ResearchNational Institute of Sensory OrgansNational Hospital Organization Tokyo Medical CenterTokyoJapan

Inherited retinal diseases(IRD)are a leading cause of blindness in the working age *** advances in ocular genetics,retinal imaging and molecular biology,have conspired to create the ideal environment for establishing treatments for IRD,with the first approved gene therapy and the commencement of multiple therapy *** scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in *** we present in a comprehensive and concise manner the imaging findings of:(I)macular dystrophies(MD)[Stargardt disease(ABCA4),X-linked retinoschisis(RS1),Best disease(BEST1),pattern dystrophy(PRPH2),Sorsby fundus dystrophy(TIMP3),and autosomal dominant drusen(EFEMP1)],(II)cone and cone-rod dystrophies(GUCA1A,PRPH2,ABCA4 and RPGR),(III)cone dysfunction syndromes[achromatopsia(CNGA3,CNGB3,PDE6C,PDE6H,GNAT2,ATF6],blue-cone monochromatism(OPN1LW/OPN1MW array),oligocone trichromacy,bradyopsia(RGS9/R9AP)and Bornholm eye disease(OPN1LW/OPN1MW),(IV)leber congenital amaurosis(GUCY2D,CEP290,CRB1,RDH12,RPE65,TULP1,AIPL1 and NMNAT1),(V)rod-cone dystrophies[retinitis pigmentosa,enhanced S-Cone syndrome(NR2E3),Bietti crystalline corneoretinal dystrophy(CYP4V2)],(VI)rod dysfunction syndromes(congenital stationary night blindness,fundus albipunctatus(RDH5),Oguchi disease(SAG,GRK1),and(VII)chorioretinal dystrophies[choroideremia(CHM),gyrate atrophy(OAT)].

关键词： Retinal imaging inherited retinal disease retinitis pigmentosa macular dystrophy leber congenital amaurosis

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