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

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Publikace nespadá pod Lékařskou fakultu, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.

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WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan HLADÍLKOVÁ Eva FILKOVÁ Hana MAKATUROVÁ Eva NIKOLOVÁ Petra BEHARKA Rastislav GAILLYOVÁ Renata KUGLÍK Petr

Rok publikování 2019
Druh Článek v odborném periodiku
Časopis / Zdroj Molecular Medicine Reports
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
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Doi http://dx.doi.org/10.3892/mmr.2019.10303
Klíčová slova NGS; Bainbridge Ropers syndrome; global developmental delay
Popis 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.Arg1004GlufsTer21), 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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