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Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Overview of attention for article published in International Journal of Retina and Vitreous , September 2017
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Title
Gene panel sequencing in Brazilian patients with retinitis pigmentosa
Published in
International Journal of Retina and Vitreous , September 2017
DOI 10.1186/s40942-017-0087-6
Pubmed ID
Authors

Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum

Abstract

Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the fundus changes include bone-spicule formations, attenuated blood vessels, reduced and/or abnormal electroretinograms, changes in structure imaged by optical coherence tomography, and subjective changes in visual function. The different syndromic and nonsyndromic forms of retinal dystrophies can be attributed to mutations in more than 250 genes. Molecular diagnosis for patients with retinitis pigmentosa has been hampered by extreme genetic and clinical heterogeneity between retinitis pigmentosa and other forms of retinal dystrophies. Next generation sequencing (NGS) technologies are among the most promising techniques to identify pathogenic variations in retinal dystrophies. The purpose of this study was to discover the molecular diagnosis for Brazilian patients clinically diagnosed with a retinitis pigmentosa pattern of inheritance by using NGS technologies. Sixteen patients with the clinical diagnosis of retinitis pigmentosa were included in the study. Their DNA was sequenced in a panel with 132 genes related to retinal dystrophies using the Illumina(®) platform. Sequence analysis and variation calling was performed using Soft Genetics(®), NextGene, and Geneticist Assistant software. The criteria for pathogenicity analysis were established according to the results of prediction programs (Polyphen 2, Mutation taster and MetaCore™) and comparison of pathogenic variations found with databases. The identified potentially pathogenic variations were all confirmed by Sanger sequencing. There were 89 variations predicted as pathogenic, but only 10 of them supported the conclusion of the molecular diagnosis. Five of the nine patients were autosomal dominant RP (56%), two (22%) were autosomal recessive RP, and two (22%) were X-linked RP. Nine of the 16 patients (56%) had probably positive or positive results. The Next Generation Sequencing used in this study allowed the molecular diagnosis to be confirmed in 56% of the patients and clarified the inheritance pattern of the patient's retinal dystrophies.

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Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 20%
Other 3 15%
Student > Master 2 10%
Student > Postgraduate 2 10%
Student > Ph. D. Student 1 5%
Other 3 15%
Unknown 5 25%
Readers by discipline Count As %
Medicine and Dentistry 5 25%
Biochemistry, Genetics and Molecular Biology 3 15%
Agricultural and Biological Sciences 3 15%
Computer Science 1 5%
Business, Management and Accounting 1 5%
Other 1 5%
Unknown 6 30%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 September 2017.
All research outputs
#9,431,001
of 11,799,674 outputs
Outputs from International Journal of Retina and Vitreous
#19
of 50 outputs
Outputs of similar age
#178,142
of 241,596 outputs
Outputs of similar age from International Journal of Retina and Vitreous
#2
of 2 outputs
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