The phenotype ‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Due to extensive clinical and genetic heterogeneity of intellectual disability syndromes (ID), the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, significant fraction of ID patients remains without clinical diagnosis. Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype ‐driven bioinformatic analysis method, PhenIX, utilizing targeted next generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of syndromes with intellec tual disability. AbstractBackgroundDue to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis.Methods, results, and conclusionsHere, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype ‐driven bioinformatic analysis method, PhenIX, utilizing targeted next‐generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individual...

Source: Molecular Genetics & Genomic Medicine - April 25, 2020 Category: Genetics & Stem Cells Authors: Aleksandra Jezela ‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel Tags: ORIGINAL ARTICLE Source Type: research