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Abstract Details

Gene Variants of Unknown Significance in Down Syndrome Regression Disorder
Child Neurology and Developmental Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
8-005

This study sought to evaluate if variants in genes of immune regulation are present on whole exome sequencing (WES) in persons with DSRD and to determine if these variants are associated with clinical characteristics of disease severity, neurodiagnostic study abnormalities and immunotherapy responsiveness.

Individuals with Down Syndrome Regression Disorder (DSRD) have been reported to be immunotherapy responsive in several studies. Although hypotheses regarding interferon signaling abnormalities in individuals with DSRD and other autoimmune conditions Down syndrome exist, the heterogeneity both with regards to diagnostic studies and immunotherapy response may indicate multiple mechanisms.
A single-center, retrospective, chart-based, review was performed for individuals with DSRD who had whole exome sequencing performed as part of their diagnostic work up. For in silico prediction of variant functional effects, we used Polymorphism Phenotyping v2 (PolyPhen-2), and Sorting Intolerant from Tolerant (SIFT) with Genome Reference Consortium Human Build 37 (GRCh37/hg19) assembly input.