scholarly journals An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline

2021 ◽  
Vol 9 ◽  
Author(s):  
Panfeng Wang ◽  
Xiaoyun Jia ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Yuxi Long ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Alopecia Areata ◽  
Early Onset ◽  
High Myopia ◽  
High Throughput Sequencing ◽  
Occipital Region ◽  
Knobloch Syndrome ◽  
Scalp Defects ◽  
Diagnostic Clue ◽  
Early Diagnostic

BackgroundHigh myopia with alopecia areata in the occipital region has been observed in patients with Knobloch syndrome caused by COL18A1 mutations. This study investigated other possible genetic causes of high myopia in patients with alopecia areata in the cranial midline.MethodsSix patients with early onset high myopia and alopecia areata in the cranial midline were recruited. Targeted high-throughput sequencing was performed on the proband’s DNA to detect potential pathogenic variants. Cosegregation analysis was performed for available family members. Minigene assay and RNA Sequencing were used to validate the abnormality of possible splicing change and gross deletion. Ophthalmological and neuroimaging examinations were performed.ResultsEight novel and one known loss-of-function mutants were detected in all six patients, including a gross deletion detected by RNA sequencing. Four COL18A1 mutants in three patients with scalp leisure in the occipital region; and five LAMA1 mutations in three patients with scalp leisure in the parietal region. Further assessments indicated that patients with COL18A1 mutations had Knobloch syndrome, and the patients with LAMA1 mutations had Poretti–Boltshauser syndrome.ConclusionOur study found that early onset high myopia with midline alopecia areata could be caused not only by mutations of the COL18A1 gene but also by mutations in the LAMA1 gene. To our knowledge, we are the first to observe scalp defects in patients with LAMA1 mutations. High myopia with alopecia areata in the cranial midline could be treated as an early diagnostic clue for ophthalmologists to consider the two kinds of rare diseases.

scholarly journals Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Noémi Széll ◽  
Tamás Fehér ◽  
Zoltán Maróti ◽  
Tibor Kalmár ◽  
Dóra Latinovics ◽  
...  
Keyword(s):  
Middle Ages ◽  
Early Onset ◽  
Colour Vision ◽  
High Myopia ◽  
Field Testing ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Whole Exome ◽  
Caucasian Family ◽  
Cone System

Abstract Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

scholarly journals Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia

2015 ◽  
Vol 8 (1) ◽  
pp. 78
Author(s):  
Sabyasachi Bandyopadhyay ◽  
Indrani Bhattacharjee ◽  
SanatKumar Ghosh ◽  
KanchanKumar Mondal
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Forearm fullness in Coffin-Lowry syndrome: A misleading yet possible early diagnostic clue

1984 ◽  
Vol 18 (2) ◽  
pp. 195-199 ◽  
Author(s):  
Joseph H. Hersh ◽  
Bernard Weisskopf ◽  
Crystal DeCoster ◽  
John M. Opitz
Keyword(s):  
Diagnostic Clue ◽  
Early Diagnostic

scholarly journals A Comprehensive Coexpression Network Analysis in Vibrio cholerae

mSystems ◽  
2020 ◽  
Vol 5 (4) ◽  
Author(s):  
Cory D. DuPai ◽  
Claus O. Wilke ◽  
Bryan W. Davies
Keyword(s):  
Network Analysis ◽  
Vibrio Cholerae ◽  
Rna Sequencing ◽  
High Throughput Sequencing ◽  
Model Organism ◽  
Coexpression Network ◽  
Sequencing Data ◽  
Content Type ◽  
The Impact ◽  
Coexpression Network Analysis

ABSTRACT Research into the evolution and pathogenesis of Vibrio cholerae has benefited greatly from the generation of high-throughput sequencing data to drive molecular analyses. The steady accumulation of these data sets now provides a unique opportunity for in silico hypothesis generation via coexpression analysis. Here, we leverage all published V. cholerae RNA sequencing data, in combination with select data from other platforms, to generate a gene coexpression network that validates known gene interactions and identifies novel genetic partners across the entire V. cholerae genome. This network provides direct insights into genes influencing pathogenicity, metabolism, and transcriptional regulation, further clarifies results from previous sequencing experiments in V. cholerae (e.g., transposon insertion sequencing [Tn-seq] and chromatin immunoprecipitation sequencing [ChIP-seq]), and expands upon microarray-based findings in related Gram-negative bacteria. IMPORTANCE Cholera is a devastating illness that kills tens of thousands of people annually. Vibrio cholerae, the causative agent of cholera, is an important model organism to investigate both bacterial pathogenesis and the impact of horizontal gene transfer on the emergence and dissemination of new virulent strains. Despite the importance of this pathogen, roughly one-third of V. cholerae genes are functionally unannotated, leaving large gaps in our understanding of this microbe. Through coexpression network analysis of existing RNA sequencing data, this work develops an approach to uncover novel gene-gene relationships and contextualize genes with no known function, which will advance our understanding of V. cholerae virulence and evolution.

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

2014 ◽  
Vol 35 (5) ◽  
pp. 1212.e1-1212.e5 ◽  
Author(s):  
Matthis Synofzik ◽  
Christoph Born ◽  
Axel Rominger ◽  
Nina Lummel ◽  
Ludger Schöls ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
High Throughput ◽  
Early Onset ◽  
High Throughput Sequencing

scholarly journals SimFuse: A Novel Fusion Simulator for RNA Sequencing (RNA-Seq) Data

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Yuxiang Tan ◽  
Yann Tambouret ◽  
Stefano Monti
Keyword(s):  
Sample Size ◽  
Rna Sequencing ◽  
High Throughput Sequencing ◽  
Performance Metrics ◽  
Simulated Data ◽  
Real Data ◽  
Rna Seq ◽  
Sequencing Data ◽  
Detection Algorithms ◽  
Fusion Detection

The performance evaluation of fusion detection algorithms from high-throughput sequencing data crucially relies on the availability of data with known positive and negative cases of gene rearrangements. The use of simulated data circumvents some shortcomings of real data by generation of an unlimited number of true and false positive events, and the consequent robust estimation of accuracy measures, such as precision and recall. Although a few simulated fusion datasets from RNA Sequencing (RNA-Seq) are available, they are of limited sample size. This makes it difficult to systematically evaluate the performance of RNA-Seq based fusion-detection algorithms. Here, we present SimFuse to address this problem. SimFuse utilizes real sequencing data as the fusions’ background to closely approximate the distribution of reads from a real sequencing library and uses a reference genome as the template from which to simulate fusions’ supporting reads. To assess the supporting read-specific performance, SimFuse generates multiple datasets with various numbers of fusion supporting reads. Compared to an extant simulated dataset, SimFuse gives users control over the supporting read features and the sample size of the simulated library, based on which the performance metrics needed for the validation and comparison of alternative fusion-detection algorithms can be rigorously estimated.

P2-345: Early-onset dementia: Needs of patients and carers in the early diagnostic stage

2012 ◽  
Vol 8 (4S_Part_10) ◽  
pp. P382-P382 ◽  
Author(s):  
Theresa Green ◽  
Eric Smith ◽  
David Hogan ◽  
Dawn Pearson ◽  
Pamela Roach
Keyword(s):  
Early Onset ◽  
Early Onset Dementia ◽  
Early Diagnostic
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