2020

Molecular genetics & genomic medicine

Rocznik: 2020 | Tom: 8 | Numer: 9

artykuł naukowy

angielski

EN Background: Due to extensive clinical and genetic heterogeneity of intellectual dis-ability (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 re-tardation, autosomal dominant 31 (MIM 616158), and Bosch–Boonstra–Schaaf optic atrophy syndrome (MIM 615722).

e1263

10.1002/mgg3.1263

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1263

CC BY-ND (uznanie autorstwa - bez utworów zależnych)

ostateczna wersja autorska

26.04.2020

przed opublikowaniem

70

70