Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2016-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4713063?pdf=render |
| _version_ | 1819195008083820544 |
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| author | Nicole Weisschuh Anja K Mayer Tim M Strom Susanne Kohl Nicola Glöckle Max Schubach Sten Andreasson Antje Bernd David G Birch Christian P Hamel John R Heckenlively Samuel G Jacobson Christina Kamme Ulrich Kellner Erdmute Kunstmann Pietro Maffei Charlotte M Reiff Klaus Rohrschneider Thomas Rosenberg Günther Rudolph Rita Vámos Balázs Varsányi Richard G Weleber Bernd Wissinger |
| author_facet | Nicole Weisschuh Anja K Mayer Tim M Strom Susanne Kohl Nicola Glöckle Max Schubach Sten Andreasson Antje Bernd David G Birch Christian P Hamel John R Heckenlively Samuel G Jacobson Christina Kamme Ulrich Kellner Erdmute Kunstmann Pietro Maffei Charlotte M Reiff Klaus Rohrschneider Thomas Rosenberg Günther Rudolph Rita Vámos Balázs Varsányi Richard G Weleber Bernd Wissinger |
| author_sort | Nicole Weisschuh |
| collection | DOAJ |
| description | Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes. |
| first_indexed | 2024-12-23T02:05:55Z |
| format | Article |
| id | doaj.art-3266adb14a06463ea339fc8ac073fe8e |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-23T02:05:55Z |
| publishDate | 2016-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-3266adb14a06463ea339fc8ac073fe8e2022-12-21T18:03:53ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-01111e014595110.1371/journal.pone.0145951Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Nicole WeisschuhAnja K MayerTim M StromSusanne KohlNicola GlöckleMax SchubachSten AndreassonAntje BerndDavid G BirchChristian P HamelJohn R HeckenlivelySamuel G JacobsonChristina KammeUlrich KellnerErdmute KunstmannPietro MaffeiCharlotte M ReiffKlaus RohrschneiderThomas RosenbergGünther RudolphRita VámosBalázs VarsányiRichard G WeleberBernd WissingerRetinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes.http://europepmc.org/articles/PMC4713063?pdf=render |
| spellingShingle | Nicole Weisschuh Anja K Mayer Tim M Strom Susanne Kohl Nicola Glöckle Max Schubach Sten Andreasson Antje Bernd David G Birch Christian P Hamel John R Heckenlively Samuel G Jacobson Christina Kamme Ulrich Kellner Erdmute Kunstmann Pietro Maffei Charlotte M Reiff Klaus Rohrschneider Thomas Rosenberg Günther Rudolph Rita Vámos Balázs Varsányi Richard G Weleber Bernd Wissinger Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS ONE |
| title | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. |
| title_full | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. |
| title_fullStr | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. |
| title_full_unstemmed | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. |
| title_short | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. |
| title_sort | mutation detection in patients with retinal dystrophies using targeted next generation sequencing |
| url | http://europepmc.org/articles/PMC4713063?pdf=render |
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