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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00071004" target="_blank" >RIV/65269705:_____/19:00071004 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/19:00109841
Result on the web
<a href="https://www.spandidos-publications.com/mmr/20/1/505?text=fulltext" target="_blank" >https://www.spandidos-publications.com/mmr/20/1/505?text=fulltext</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3892/mmr.2019.10303" target="_blank" >10.3892/mmr.2019.10303</a>

Result language
angličtina
Original language name
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
Original language description
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 Disease(XT) 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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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