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@article{1536880,
author = {Wayhelová, Markéta and Oppelt, Jan and Smetana, Jan and Hladílková, Eva and Filková, Hana and Makaturová, Eva and Nikolová, Petra and Beharka, Rastislav and Gaillyová, Renata and Kuglík, Petr},
article_location = {Athens},
article_number = {1},
doi = {http://dx.doi.org/10.3892/mmr.2019.10303},
keywords = {NGS; Bainbridge Ropers syndrome; global developmental delay},
language = {eng},
issn = {1791-2997},
journal = {Molecular Medicine Reports},
title = {Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay},
url = {https://www.spandidos-publications.com/mmr/20/1/505},
volume = {20},
year = {2019}
}
TY - JOUR
ID - 1536880
AU - Wayhelová, Markéta - Oppelt, Jan - Smetana, Jan - Hladílková, Eva - Filková, Hana - Makaturová, Eva - Nikolová, Petra - Beharka, Rastislav - Gaillyová, Renata - Kuglík, Petr
PY - 2019
TI - Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
JF - Molecular Medicine Reports
VL - 20
IS - 1
SP - 505-512
EP - 505-512
PB - SPANDIDOS PUBL LTD
SN - 17912997
KW - NGS
KW - Bainbridge Ropers syndrome
KW - global developmental delay
UR - https://www.spandidos-publications.com/mmr/20/1/505
L2 - https://www.spandidos-publications.com/mmr/20/1/505
N2 - 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.
ER -
WAYHELOVÁ, Markéta, Jan OPPELT, Jan SMETANA, Eva HLADÍLKOVÁ, Hana FILKOVÁ, Eva MAKATUROVÁ, Petra NIKOLOVÁ, Rastislav BEHARKA, Renata GAILLYOVÁ a Petr KUGLÍK. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. \textit{Molecular Medicine Reports}. Athens: SPANDIDOS PUBL LTD, 2019, roč.~20, č.~1, s.~505-512. ISSN~1791-2997. Dostupné z: https://dx.doi.org/10.3892/mmr.2019.10303.
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