The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.

Abstract:

:Purpose: To explore a method for the early, rapid and accurate diagnosis of Wolfram syndrome 1 (WS1) and further enrich the spectrum of WFS1 mutations in the Chinese population. Methods: We analyzed 279 patients with unexplained optic atrophy using next-generation sequencing. All patients underwent detailed clinical evaluations. Furthermore, Sanger sequencing and cosegregation analyses were performed within families. Results: Five patients with WS1 were identified in four unrelated families, and their clinical features were reviewed in detail. Seven variants of WFS1 were detected, including three reported variants (p.G674R, p.Tyr508Cysfs*34, and p.G702D) and four novel variants (p.W540G, p.K634*, p.F770C, and p.Q584P). Furthermore, the variant p.G674R was recurrent. Conclusion: Considering that WS1 is a rare progressive neurodegenerative disease, early diagnosis is beneficial to the systematic evaluation, monitoring and management of complications to improve patient quality of life and delay the progression of the disease. In the future, precise diagnosis on the basis of clinical manifestation and genetic testing will become the gold standard for the diagnosis of hereditary eye diseases and syndromes. Finally, our results further increase the spectrum of WFS1 mutations by adding four novel variants to the limited data available in the Chinese population.

journal_name

Front Genet

journal_title

Frontiers in genetics

authors

Wang DD,Hu FY,Gao FJ,Zhang SH,Xu P,Tian GH,Wu JH

doi

10.3389/fgene.2019.01217

subject

Has Abstract

pub_date

2019-11-26 00:00:00

pages

1217

issn

1664-8021

journal_volume

10

pub_type

杂志文章
  • Analysis of Transcriptome and Epitranscriptome in Plants Using PacBio Iso-Seq and Nanopore-Based Direct RNA Sequencing.

    abstract::Nanopore sequencing from Oxford Nanopore Technologies (ONT) and Pacific BioSciences (PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are revolutionizing the way transcriptomes are analyzed. These methods offer many advantages over most widely used high-throughput short-read RNA sequenci...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2019.00253

    authors: Zhao L,Zhang H,Kohnen MV,Prasad KVSK,Gu L,Reddy ASN

    更新日期:2019-03-21 00:00:00

  • Circular RNA circSVIL Promotes Myoblast Proliferation and Differentiation by Sponging miR-203 in Chicken.

    abstract::Circular RNAs (circRNAs), expressed abundantly and universally in various eukaryotes, are involved in growth and development of animals. Our previous study on circRNA sequencing revealed that circSVIL, an exonic circular, expressed differentially among skeletal muscle at 11 embryo age (E11), 16 embryo age (E16), and 1...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2018.00172

    authors: Ouyang H,Chen X,Li W,Li Z,Nie Q,Zhang X

    更新日期:2018-05-16 00:00:00

  • Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies.

    abstract::Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25-60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent years and may now be...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2019.01204

    authors: Lye JJ,Williams A,Baralle D

    更新日期:2019-12-11 00:00:00

  • The Toolbox for Fiber Flax Breeding: A Pipeline From Gene Expression to Fiber Quality.

    abstract::The goal of any plant breeding program is to improve quality of a target crop. Crop quality is a comprehensive feature largely determined by biological background. To improve the quality parameters of crops grown for the production of fiber, a functional approach was used to search for genes suitable for the effective...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.589881

    authors: Galinousky D,Mokshina N,Padvitski T,Ageeva M,Bogdan V,Kilchevsky A,Gorshkova T

    更新日期:2020-11-12 00:00:00

  • Bioinformatics Analysis of Actin Molecules: Why Quantity Does Not Translate Into Quality?

    abstract::It is time to review all the available data and find the distinctive characteristics of actin that make it such an important cell molecule. The presented double-stranded organization of filamentous actin cannot explain the strong polymorphism of actin fibrils. In this work, we performed bioinformatics analysis of a se...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.617763

    authors: Glyakina AV,Galzitskaya OV

    更新日期:2020-12-10 00:00:00

  • Association of Apelin and Apelin Receptor Polymorphisms With the Risk of Comorbid Depression and Anxiety in Coronary Heart Disease Patients.

    abstract::The Apelin (APLN)/apelin receptor (APLNR) signaling pathway is a newly identified regulator in various cardiovascular diseases, which is considered as a candidate pathway for the occurrence of coronary heart disease (CHD), depression, and anxiety. The goal of this study was to investigate the association between APLN/...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00893

    authors: Wang Y,Liu W,Xiao Y,Yuan H,Wang F,Jiang P,Luo Z

    更新日期:2020-08-11 00:00:00

  • Genome-Wide Association of Genetic Variants With Refraction, Axial Length, and Corneal Curvature: A Longitudinal Study of Chinese Schoolchildren.

    abstract:Background:Myopia is a common eye disorder that is approaching epidemic proportions worldwide. A genome-wide association study identified AREG (rs12511037), GABRR1 (rs13215566), and PDE10A (rs12206610) as being associated with refractive error in Asian populations. The present study investigated the associations betwee...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00276

    authors: Lin Y,Ding Y,Jiang D,Li C,Huang X,Liu L,Xiao H,Vasudevan B,Chen Y

    更新日期:2020-03-25 00:00:00

  • MTGO-SC, A Tool to Explore Gene Modules in Single-Cell RNA Sequencing Data.

    abstract::The identification of functional modules in gene interaction networks is a key step in understanding biological processes. Network interpretation is essential for unveiling biological mechanisms, candidate biomarkers, or potential targets for drug discovery/repositioning. Plenty of biological module identification alg...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00953

    authors: Nazzicari N,Vella D,Coronnello C,Di Silvestre D,Bellazzi R,Marini S

    更新日期:2019-10-09 00:00:00

  • MasterOfPores: A Workflow for the Analysis of Oxford Nanopore Direct RNA Sequencing Datasets.

    abstract::The direct RNA sequencing platform offered by Oxford Nanopore Technologies allows for direct measurement of RNA molecules without the need of conversion to complementary DNA, fragmentation or amplification. As such, it is virtually capable of detecting any given RNA modification present in the molecule that is being s...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00211

    authors: Cozzuto L,Liu H,Pryszcz LP,Pulido TH,Delgado-Tejedor A,Ponomarenko J,Novoa EM

    更新日期:2020-03-17 00:00:00

  • The functional consequences of relative substrate specificity in complex biochemical systems.

    abstract::A biochemical activity, that is, enzymatic reaction or molecular interaction, frequently involves a molecule, for example, an enzyme, capable of interacting with numerous substrates or partners. Specificity is a fundamental property of biochemical activities, and relative specificity refers to the situation whereby a ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2011.00065

    authors: Zeng Y

    更新日期:2011-09-20 00:00:00

  • Prioritizing Cancer Genes Based on an Improved Random Walk Method.

    abstract::Identifying driver genes that contribute to cancer progression from numerous passenger genes, although a central goal, is a major challenge. The protein-protein interaction network provides convenient and reasonable assistance for driver gene discovery. Random walk-based methods have been widely used to prioritize nod...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00377

    authors: Wei PJ,Wu FX,Xia J,Su Y,Wang J,Zheng CH

    更新日期:2020-04-28 00:00:00

  • Genetic Diversity of Common Bean (Phaseolus vulgaris L.) Germplasm Resources in Chongqing, Evidenced by Morphological Characterization.

    abstract::In this study, the genetic diversity of 115 common bean germplasm resources collected from 27 counties in Chongqing over 3 years (2015-2017) was assessed. The results showed that the genetic diversity of the common bean germplasm resources was high, with an average diversity index of 1.447. The diversity of the qualit...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00697

    authors: Long J,Zhang J,Zhang X,Wu J,Chen H,Wang P,Wang Q,Du C

    更新日期:2020-07-08 00:00:00

  • Understanding Dietary Intervention-Mediated Epigenetic Modifications in Metabolic Diseases.

    abstract::The global prevalence of metabolic disorders, such as obesity, diabetes and fatty liver disease, is dramatically increasing. Both genetic and environmental factors are well-known contributors to the development of these diseases and therefore, the study of epigenetics can provide additional mechanistic insight. Dietar...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2020.590369

    authors: Asif S,Morrow NM,Mulvihill EE,Kim KH

    更新日期:2020-10-15 00:00:00

  • Construction and Analysis of a ceRNA Network Reveals Potential Prognostic Markers in Colorectal Cancer.

    abstract::Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths worldwide and is derived from an accumulation of genetic and epigenetic changes. This study explored potential prognostic markers in CRC via the construction and in-depth analysis of a competing endogenous RNA (ceRNA) network, which was gene...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00418

    authors: Guo L,Yang G,Kang Y,Li S,Duan R,Shen L,Jiang W,Qian B,Yin Z,Liang T

    更新日期:2020-05-08 00:00:00

  • Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network.

    abstract::In 2017 the Swiss federal government established the Swiss Personalized Health Network (SPHN), a nationally coordinated data infrastructure for genetic research. The SPHN advisory group on Ethical, Legal, and Social Implications (ELSI) was tasked with the creation of a recommendation to ensure ethically responsible re...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.585820

    authors: Blasimme A,Brall C,Vayena E

    更新日期:2020-12-11 00:00:00

  • Evolinc: A Tool for the Identification and Evolutionary Comparison of Long Intergenic Non-coding RNAs.

    abstract::Long intergenic non-coding RNAs (lincRNAs) are an abundant and functionally diverse class of eukaryotic transcripts. Reported lincRNA repertoires in mammals vary, but are commonly in the thousands to tens of thousands of transcripts, covering ~90% of the genome. In addition to elucidating function, there is particular...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2017.00052

    authors: Nelson ADL,Devisetty UK,Palos K,Haug-Baltzell AK,Lyons E,Beilstein MA

    更新日期:2017-05-09 00:00:00

  • Is homologous recombination really an error-free process?

    abstract::Homologous recombination (HR) is an evolutionarily conserved process that plays a pivotal role in the equilibrium between genetic stability and diversity. HR is commonly considered to be error-free, but several studies have shown that HR can be error-prone. Here, we discuss the actual accuracy of HR. First, we present...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2014.00175

    authors: Guirouilh-Barbat J,Lambert S,Bertrand P,Lopez BS

    更新日期:2014-06-11 00:00:00

  • Component-Based Design and Assembly of Heuristic Multiple Sequence Alignment Algorithms.

    abstract::In recent years, there has been an explosive increase in the amount of bioinformatics data produced, but data are not information. The purpose of bioinformatics research is to obtain information with biological significance from large amounts of data. Multiple sequence alignment is widely used in sequence homology det...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00105

    authors: Shi H,Zhang X

    更新日期:2020-02-27 00:00:00

  • Inherited and Acquired Determinants of Hepatic CYP3A Activity in Humans.

    abstract::Human CYP3A enzymes (including CYP3A4 and CYP4A5) metabolize about 40% of all drugs and numerous other environmental and endogenous substances. CYP3A activity is highly variable within and between humans. As a consequence, therapy with standard doses often results in too low or too high blood and tissue concentrations...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00944

    authors: Matthaei J,Bonat WH,Kerb R,Tzvetkov MV,Strube J,Brunke S,Sachse-Seeboth C,Sehrt D,Hofmann U,von Bornemann Hjelmborg J,Schwab M,Brockmöller J

    更新日期:2020-08-21 00:00:00

  • Identification and Analysis of the GASR Gene Family in Common Wheat (Triticum aestivum L.) and Characterization of TaGASR34, a Gene Associated With Seed Dormancy and Germination.

    abstract::Seed dormancy and germination are important agronomic traits in wheat (Triticum aestivum L.) because they determine pre-harvest sprouting (PHS) resistance and thus affect grain production. These processes are regulated by Gibberellic Acid-Stimulated Regulator (GASR) genes. In this study, we identified 37 GASR genes in...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00980

    authors: Cheng X,Wang S,Xu D,Liu X,Li X,Xiao W,Cao J,Jiang H,Min X,Wang J,Zhang H,Chang C,Lu J,Ma C

    更新日期:2019-10-18 00:00:00

  • Long-Read-Based de novo Genome Assembly and Comparative Genomics of the Wheat Leaf Rust Pathogen Puccinia triticina Identifies Candidates for Three Avirulence Genes.

    abstract::Leaf rust, caused by Puccinia triticina (Pt), is one of the most devastating diseases of wheat, affecting production in nearly all wheat-growing regions worldwide. Despite its economic importance, genomic resources for Pt are very limited. In the present study, we have used long-read sequencing (LRS) and the pipeline ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00521

    authors: Wu JQ,Dong C,Song L,Park RF

    更新日期:2020-06-04 00:00:00

  • GC-AG Introns Features in Long Non-coding and Protein-Coding Genes Suggest Their Role in Gene Expression Regulation.

    abstract::Long non-coding RNAs (lncRNAs) are recognized as an important class of regulatory molecules involved in a variety of biological functions. However, the regulatory mechanisms of long non-coding genes expression are still poorly understood. The characterization of the genomic features of lncRNAs is crucial to get insigh...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.00488

    authors: Abou Alezz M,Celli L,Belotti G,Lisa A,Bione S

    更新日期:2020-05-15 00:00:00

  • Linc-GALMD1 Regulates Viral Gene Expression in the Chicken.

    abstract::A rapidly increasing number of reports on dysregulated long intergenic non-coding RNA (lincRNA) expression across numerous types of cancers indicates that aberrant lincRNA expression may be a major contributor to tumorigenesis. Marek's disease (MD) is a T cell lymphoma of chickens induced by Marek's disease virus (MDV...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.01122

    authors: He Y,Han B,Ding Y,Zhang H,Chang S,Zhang L,Zhao C,Yang N,Song J

    更新日期:2019-11-14 00:00:00

  • Tools for the Recognition of Sorting Signals and the Prediction of Subcellular Localization of Proteins From Their Amino Acid Sequences.

    abstract::At the time of translation, nascent proteins are thought to be sorted into their final subcellular localization sites, based on the part of their amino acid sequences (i.e., sorting or targeting signals). Thus, it is interesting to computationally recognize these signals from the amino acid sequences of any given prot...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2020.607812

    authors: Imai K,Nakai K

    更新日期:2020-11-25 00:00:00

  • Comparative Genomic Analysis Reveals Extensive Genetic Variations of WRKYs in Solanaceae and Functional Variations of CaWRKYs in Pepper.

    abstract::As a conserved protein family, WRKY has been shown to be involved in multiple biological processes in plants. However, the mechanism of functional diversity for WRKYs in pepper has not been well elucidated. Here, a total of 223 WRKY members from solanaceae crops including pepper, tomato and potato, were analyzed using...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00492

    authors: Cheng Y,Ahammed GJ,Yao Z,Ye Q,Ruan M,Wang R,Li Z,Zhou G,Wan H

    更新日期:2019-05-28 00:00:00

  • HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.

    abstract::HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the HFE p.C282Y mutation is present in 1/10 people of northern European descent, resulting in one in two hundred people will be homozygous. However, the H...

    journal_title:Frontiers in genetics

    pub_type:

    doi:10.3389/fgene.2020.00077

    authors: Zhang W,Wang X,Duan W,Xu A,Zhao X,Huang J,You H,Brissot P,Ou X,Jia J

    更新日期:2020-02-21 00:00:00

  • A Novel Approach to Clustering Genome Sequences Using Inter-nucleotide Covariance.

    abstract::Classification of DNA sequences is an important issue in the bioinformatics study, yet most existing methods for phylogenetic analysis including Multiple Sequence Alignment (MSA) are time-consuming and computationally expensive. The alignment-free methods are popular nowadays, whereas the manual intervention in those ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00234

    authors: Dong R,He L,He RL,Yau SS

    更新日期:2019-04-09 00:00:00

  • A Causality Perspective of Genomic Breed Composition for Composite Animals.

    abstract::Genomic breed composition (GBC) of an individual animal refers to the partition of its genome according to the inheritance from its ancestors or ancestral breeds. For crossbred or composite animals, knowing their GBC is useful to estimate heterosis, to characterize their actual inheritance from foundation breeds, and ...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2020.546052

    authors: Wu XL,Li Z,Wang Y,He J,Rosa GJM,Ferretti R,Genho J,Tait RG Jr,Parham J,Schultz T,Bauck S

    更新日期:2020-10-30 00:00:00

  • Apoplastic Cell Death-Inducing Proteins of Filamentous Plant Pathogens: Roles in Plant-Pathogen Interactions.

    abstract::Filamentous pathogens, such as phytopathogenic oomycetes and fungi, secrete a remarkable diversity of apoplastic effector proteins to facilitate infection, many of which are able to induce cell death in plants. Over the past decades, over 177 apoplastic cell death-inducing proteins (CDIPs) have been identified in fila...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章,评审

    doi:10.3389/fgene.2020.00661

    authors: Li Y,Han Y,Qu M,Chen J,Chen X,Geng X,Wang Z,Chen S

    更新日期:2020-06-26 00:00:00

  • De novo Assembly and Characterization of the Floral Transcriptomes of Two Varieties of Melastoma malabathricum.

    abstract::Melastoma malabathricum is an important medicinal and landscape plant that is globally distributed in temperate and subtropical regions. However, available genomic information for the entire Melastomataceae family is notably limited. In view of the application potential of floral parts in secondary metabolite extracti...

    journal_title:Frontiers in genetics

    pub_type: 杂志文章

    doi:10.3389/fgene.2019.00521

    authors: Zheng T,Lin Y,Wang L,Lin Q,Lin X,Chen Z,Lin Z

    更新日期:2019-06-19 00:00:00