Importance of Phenotype-Genotype correlation for Next Generation Sequencing Data to diagnose Pediatric Neurological Disorders

Abstract

Background:Pediatric neurological disorders can be mainly categorized into four areas such as movement disorders, epilepsy associated disorders, neuro-peripheral disorders and neuropsychiatric disorders. They can be identified from in-utero to 18 years. The interpretation of sequencing results based on phenotype-genotype correlation are important for the clinicians, patients and the family for further treatment and  management.Materials & Methods: Sixteen patients were referred to the department of Genetics of a tertiary care hospital for post-test counselling along with clinical exome reports. In cases where there was no reported variants, reanalysis of raw data was performed using a freeware by Illumina. Variants identified were assessed for genotype-phenotype correlations and evaluated by segregation analysis wherever required to arrive at a molecular diagnosis.Results:Six patients had a report with a pathogenic sequence variant correlating with the phenotype,   four patients were reported with a Variant of Unknown Significance, while the sequence data of remaining six patients was reanalyzed to establish diagnosis.Conclusion:Results indicate the important role that a genetic counselor plays in establishing the genotype-phenotype correlation and providing appropriate post-test genetic counselling to help pediatric neurologists to manage patients and assist patients to take informed reproductive/predictive/pre-natal decisions.

Keywords: neurological,patients,genetics,hospital