a 2017

The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant

WAYHELOVÁ, Markéta, Jan OPPELT, Denisa VESELÁ, Jan SMETANA, Filip PARDY et. al.

Basic information

Original name

The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant

Authors

WAYHELOVÁ, Markéta (203 Czech Republic, belonging to the institution), Jan OPPELT (203 Czech Republic, belonging to the institution), Denisa VESELÁ (203 Czech Republic, belonging to the institution), Jan SMETANA (203 Czech Republic, belonging to the institution), Filip PARDY (203 Czech Republic, belonging to the institution), Hana FILKOVÁ (203 Czech Republic, belonging to the institution), Dita MATUCHOVÁ (203 Czech Republic, belonging to the institution), Jana ŠOUKALOVÁ (203 Czech Republic, belonging to the institution), Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution) and Petr KUGLÍK (203 Czech Republic, guarantor, belonging to the institution)

Edition

The European Human Genetics Conference ESHG 2017, 2017

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

10603 Genetics and heredity

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.636

RIV identification code

RIV/00216224:14310/17:00114994

Organization unit

Faculty of Science

ISSN

UT WoS

000489312603038

Keywords in English

neurodevelopmental disorders; NGS; SCN2A
Změněno: 13/5/2021 18:14, Mgr. Markéta Wayhelová, Ph.D.

Abstract

V originále

Introduction: Next-generation sequencing (NGS) techniques have become a powerful tool for the identification of the genetic causes of the heterogeneous conditions such as intellectual disabilities, multiple congenital anomalies and autism spectrum disorders. Material and methods: We present our first experience with targeted NGS approach using commercially available design SureSelect Inherited Disease (Agilent Technologies) containing more than 2700 genes known to cause inherited disorders. We report on a case of 9-year-old boy with a diagnosis of severe intellectual disability related to early myoclonic encephalopathy. This patient was examined according to our investigatory algorithm, from G-banding karyotype (46,XY) to array-CGH on oligonucleotide DNA microarrays (Agilent Technologies) followed by confirmative targeted quantitative PCR and FISH. Results: We detected a de novo copy-number gain of 18q21.23 (539 kb) classified as probably benign. Consequently this patient was included in our pilot study using targeted NGS with pre-designed gene panel SureSelect Inherited disease and Illumina MiSeq. We detected de novo heterozygous missense genetic variant in SCN2A gene, resulting in the amino acid residue change from alanine to valine at position 263 (p.Ala263Val). This variant had been previously described as definitely pathogenic in patients with Otahara syndrome. Conclusions: This case has proved the usefulness and effectivity of our molecular diagnostics algorithm enhanced by NGS approaches leading to higher diagnostic yield of heterogeneous genetic conditions. This study was supported by Ministry of Health, Czech Republic [[unable to display character: –]] conceptual development of research organization (FNBr, 65269705).

Links

MUNI/A/0877/2016, interní kód MU
Name: Podpora výzkumné činnosti studentů molekulární biologie a genetiky 5 (Acronym: MBG5)
Investor: Masaryk University, Category A