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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Nicole Weisschuh1, Anja K Mayer1, Tim M Strom2
1Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Plos One
|January 15, 2016
Summary
Next-generation sequencing identified genetic mutations in 61% of patients with retinal dystrophies (RD), revealing novel mutations and refining diagnoses. This advances understanding of these blinding inherited eye diseases.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Retinal dystrophies (RD) are a heterogeneous group of inherited eye diseases causing blindness.
- Over 200 genes are implicated in various syndromic and nonsyndromic forms of RD.
- Genetic heterogeneity and clinical variability complicate diagnosis and treatment.
Purpose of the Study:
- To identify causative mutations in a large cohort of patients with retinal dystrophies using next-generation sequencing (NGS).
- To evaluate the diagnostic yield of different NGS platforms for RD.
- To discover novel disease-causing genes and mutations in RD.
Main Methods:
- Screened 89 patients/families with diverse RD subforms using targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS).
- Employed various NGS platforms for comprehensive mutation detection.
- Analyzed genetic findings in relation to clinical diagnoses.
Main Results:
- Achieved a 61% detection rate for pathogenic mutations.
- Identified 69 distinct mutations, including 39 novel mutations, in 34 known and 2 novel RD genes.
- Genetic findings led to reassessment and refinement of clinical diagnoses in several families.
Conclusions:
- NGS is a powerful tool for diagnosing retinal dystrophies, achieving a high detection rate.
- Genetic analysis revealed novel mutations and confirmed the broad clinical spectrum of RD.
- Integrated genetic and clinical data are crucial for accurate RD diagnosis and understanding disease mechanisms.
