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

J 2019

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

WAYHELOVÁ, Markéta; Jan OPPELT; Jan SMETANA; Eva HLADÍLKOVÁ; Hana FILKOVÁ et al.

Základní údaje

Originální název

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

Autoři

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

Vydání

Molecular Medicine Reports, Athens, SPANDIDOS PUBL LTD, 2019, 1791-2997

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Řecko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

Full Text

Impakt faktor

Impact factor: 2.100

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/19:00109841

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

NGS; Bainbridge Ropers syndrome; global developmental delay

Štítky

14314010, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 26. 2. 2025 13:56, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

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.

Návaznosti

MUNI/A/0824/2017, interní kód MU

Název: Podpora výzkumné činnosti studentů molekulární biologie a genetiky 6 (Akronym: MolBiolGen)

Investor: Masarykova univerzita, Podpora výzkumné činnosti studentů molekulární biologie a genetiky 6, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

90091, velká výzkumná infrastruktura

Název: NCMG

Citovat

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. Molecular Medicine Reports. Athens: SPANDIDOS PUBL LTD, 2019, roč. 20, č. 1, s. 505-512. ISSN 1791-2997. Dostupné z: https://doi.org/10.3892/mmr.2019.10303.

@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 = {https://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://doi.org/10.3892/mmr.2019.10303.

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