Dataset

Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

Dataset ID Technology Samples
EGAD00001007736 Illumina NovaSeq 6000 4

Dataset Description

Our probands A and B are boys-monozygotic twins with the clinical diagnosis of severe intellectual impairment, developmental stagnation, and dysphasia. They were diagnosed at the Department of Medical Genetics and Genomics (University Hospital Brno). Parents provided written informed consent, which was approved by the Research Ethics Committee of Masaryk University and Ethics Committee of University Hospital Brno. Peripheral blood samples were collected in sterile heparinized tubes for cytogenetic analysis. Genomic DNA samples were obtained from 1 ml peripheral blood in EDTA, according to the standard DNA isolation process using the MagNaPure system (Roche Diagnostics, Basel, Switzerland). Quality and quantity were checked using a DeNovix DS-11 Spectrophotometer (DeNovix Inc., Wilmington, DE, USA) and Qubit® 2.0 (Thermo Fisher Scientific, Inc., Waltham, MA, USA).

Who controls access to this dataset

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Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features
Contact person: Petr Brož
Email: broz [at] bioxsys [dot] cz
More details: EGAC00001002145

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