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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
E Overwater1, K Floor2, D van Beek2
1Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
European Journal of Medical Genetics
|June 24, 2017
Summary
Next-generation sequencing (NGS) effectively diagnosed genetic causes of ectopia lentis (EL) in 67% of patients. Mutations in ADAMTSL4 and FBN1 were identified, reducing misdiagnosis risks for syndromic and isolated EL.
Area of Science:
- Ophthalmology
- Medical Genetics
- Molecular Biology
Background:
- Ectopia lentis (EL) has diverse genetic origins, necessitating differentiation between syndromic and isolated forms for patient management.
- Accurate genetic diagnosis is vital for tailored treatment, surveillance, and genetic counseling.
- Next-generation sequencing (NGS) offers a sensitive method for analyzing multiple genes simultaneously.
Purpose of the Study:
- To assess the diagnostic utility of an NGS gene panel in patients with ectopia lentis.
- To review known mutations in ADAMTSL4, a primary gene associated with isolated EL.
Main Methods:
- A cohort of 24 patients with EL underwent analysis using an NGS gene panel.
- Genetic variants were identified and correlated with clinical phenotypes.
Main Results:
- A genetic diagnosis was achieved in 16 patients (67% diagnostic yield).
- Mutations were found in FBN1 (4 patients) and ADAMTSL4 (12 patients).
- The common European ADAMTSL4 founder mutation (c.767_786del) was frequently observed.
Conclusions:
- The NGS panel demonstrated high diagnostic efficacy for EL.
- Causative mutations were identified solely within ADAMTSL4 and FBN1 genes.
- Establishing a genetic diagnosis via NGS minimizes misdiagnosis and aids in understanding unexpected genetic conditions.
