Genetic insights: proband- only exome sequencing in pediatric neurological disorders.

Exome sequencing (ES) is emerging as a cost-effective and useful diagnostic tool for identifying pediatric neurological disorders with diverse clinical presentations. This retrospective study reviewed ES data from January 2021 to November 2023 for children with neurological symptoms that met the inclusion criteria at the genetic laboratory, Lok Nayak Hospital, New Delhi. Eighty-three children with the mentioned neurological features underwent proband-only ES. Of these, 43/83 (51.80%) were diagnosed with pathogenic (P) or likely pathogenic (LP) variants, 36/83 (43.37%) had variants of unknown significance (VUS), and 10/83 (12.04%) showed no variant. A definitive diagnosis could be established in 46.98% (39/83) of the patients. The results demonstrate the high diagnostic yield of ES for children with diverse neurological phenotypes, making it a useful tool for diagnosing pediatric neurological disorders. Achieving specific genetic diagnosis would not only be useful in planning further management and prognostication, but would also aid in offering genetic counselling and prenatal diagnosis to the parents of the affected proband, if they are planning any future pregnancies.