1. Genomic exploration of pediatric neurological disorders: a case series.
- Author
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Tayade N, Manoj G, Kewat A, A AK, Devulapalli R, Kumar S, Polipalli SK, Nair BG, Bandapalli OR, and Suravajhala P
- Subjects
- Humans, Child, Male, Child, Preschool, Female, Infant, Cataract genetics, Cataract congenital, Nervous System Diseases genetics, India, Genomics, Exome genetics, Arthrogryposis genetics
- Abstract
Background: Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases., Case Presentation: We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies., Conclusion: We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases., Competing Interests: Declarations. Ethics approval and consent to participate: The individuals were recruited from an outpatient clinic of Lifecare Hospitals, Amravati, Maharashtra, India. Before taking the patients’ DNA samples and subjecting them to clinical exome sequencing, informed consent was duly obtained from their parents. Consent for publication: Written informed consent was obtained from the patients’ legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Competing interests: The authors declare no conflicts of interest., (© 2025. The Author(s).)
- Published
- 2025
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