Illumina MiSeq paired end sequencing; RNA-seq to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome
RNA-seq to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome
Female patient was diagnosed with microcephaly and developmental delay at the Department of Medical Genetics, University Hospital Brno, in 2015. Patient's biological material (peripheral blood) was obtained after the signing the informed consent form (by her parents) following the requirments of The Czech Society of Medical Genetics and Genomics of the Czech Medical Association of J. E. Purkyne.  Genomic DNA was extracted from the lymphocytes of the peripheral blood using the MagNaPure system (Roche Ltd, Basel, Swiss) according to manufacturers protocol. Extracted gDNA was diluted in TE buffer and stored in -20C. SureSelectXT Target Enrichment System for Illumina Paired-End Multiplexed Sequencing Library (Agilent Technologies, Santa Clara, CA, USA)