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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14310/19:00109841

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Medicine Reports

ISSN

1791-2997

e-ISSN

—

Svazek periodika

20

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GR - Řecká republika

Počet stran výsledku

8

Strana od-do

505-512

Kód UT WoS článku

000474876100054

EID výsledku v databázi Scopus

2-s2.0-85068356796