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


ABSTRACT: BACKGROUND:Due 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 CONCLUSIONS: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 Rubinstein-Taybi syndrome 2 (MIM 613684), Spastic Paraplegia 50 (MIM 612936), Wiedemann-Steiner syndrome (MIM 605130), Cornelia de Lange syndrome 2 (MIM 300590), Cerebral creatine deficiency syndrome 1 (MIM 300352), Glass Syndrome (MIM 612313), Mental retardation, autosomal dominant 31 (MIM 616158), and Bosch-Boonstra-Schaaf optic atrophy syndrome (MIM 615722).

SUBMITTER: Jezela-Stanek A 

PROVIDER: S-EPMC7507388 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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

Jezela-Stanek Aleksandra A   Ciara Elżbieta E   Jurkiewicz Dorota D   Kucharczyk Marzena M   Jędrzejowska Maria M   Chrzanowska Krystyna H KH   Krajewska-Walasek Małgorzata M   Żemojtel Tomasz T  

Molecular genetics & genomic medicine 20200426 9


<h4>Background</h4>Due 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.<h4>Methods, results, and conclusions</h4>Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed  ...[more]

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