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Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

M. Wayhelova, J. Oppelt, J. Smetana, E. Hladilkova, H. Filkova, E. Makaturova, P. Nikolova, R. Beharka, R. Gaillyova, P. Kuglik,

. 2019 ; 20 (1) : 505-512. [pub] 20190527

Language English Country Greece

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc19044771

De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia and facial dimorphism. The present study reports a case of a girl (born in 2013) with severe global developmental delay, central hypotonia, microcephaly and poor speech. The proband was examined using a multi‑step molecular diagnostics algorithm, including karyotype and array‑comparative genomic hybridization analysis, with negative results. Therefore, the proband and her unaffected parents were enrolled for a pilot study using targeted next‑generation sequencing technology (NGS) with gene panel ClearSeq Inherited DiseaseXT and subsequent validation by Sanger sequencing. A novel de novo heterozygous frameshift variant in the ASXL3 gene (c.3006delT, p.R1004Efs*21), predicted to result in a premature termination codon, was identified. In conclusion, the present study demonstrated that targeted NGS using a suitable, gene‑rich panel may provide a conclusive molecular genetics diagnosis in children with severe global developmental delays.

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$a Hladilkova, Eva $u Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic.
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