Targeted re-sequencing in pediatric and perinatal stroke
Alice Grossi1, Mariasavina Severino2, Marta Rusmini1
1U.O.S.D. Laboratorio di Genetica e Genomica Delle Malattie Rare, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
European Journal of Medical Genetics
|August 21, 2020
Summary
A targeted gene panel identified genetic causes in 10.5% of pediatric stroke cases. This highlights the potential of genetic testing for diagnosing monogenic disorders presenting as early stroke.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Pediatric and perinatal stroke can be an early sign of undiagnosed Mendelian inheritance syndromes.
- Identifying monogenic disorders causing stroke is crucial for early diagnosis and management.
Purpose of the Study:
- To establish and validate a targeted gene panel for diagnosing monogenic disorders in pediatric stroke patients.
- To determine the diagnostic yield and clinical utility of this gene panel.
Main Methods:
- A customized gene panel of 15 genes was used to test DNA samples from 38 patients with diverse cryptogenic stroke phenotypes.
- Clinical and neuroradiological data were collected for all enrolled patients.
Main Results:
- Pathogenic variants in ABCC6 and COL4A1 genes were identified in 4 out of 38 patients (10.5%), leading to a definitive genetic diagnosis.
- The gene panel provided significant benefits for patient management in diagnosed cases.
Conclusions:
- The study demonstrates the utility of targeted gene panels in diagnosing a subset of pediatric stroke cases.
- The complexity and heterogeneity of pediatric stroke phenotypes suggest that broader genetic panels or unbiased genomic approaches may be necessary for a higher diagnostic yield.
