Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.
Mol Biol Rep
; 48(11): 7371-7378, 2021 Nov.
Article
em En
| MEDLINE
| ID: mdl-34637094
ABSTRACT
BACKGROUND:
Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests. This study's first aim was to determine the clinical usefulness of CMAs in children diagnosed with ASD in a Turkish population. The second aim was to describe the CNVs and clinical phenotypes of children with ASD. METHODS ANDRESULTS:
This was a single-center retrospective cross-sectional study. Data were obtained from the medical records of children with ASD followed at Gazi University Hospital, (Ankara, Turkey). The sample consisted of 47 ASD cases (mean age 60.34 ± 25.60 months; 82.9% boys). The diagnostic yield of the CMAs was 8.5%. Four pathogenic CNVs were identified 9p24.3p24.2 deletion, 15q11-q13 duplication, 16p11.2 deletion, and 22q13.3 deletion. Also, four variants were found at 2q36.3, 10p11.21, 15q11.2, and Xp11.22, which were classified as variants of uncertain significance (VUS).CONCLUSIONS:
The TRAP12 and PARD3 genes in CNVs classified as VUS may be worth investigating for autism. The initial identification of both clinical and biological markers can facilitate monitoring, early intervention, or prevention and advance our understanding of the neurobiology underlying ASD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Sequência
/
Predisposição Genética para Doença
/
Variações do Número de Cópias de DNA
/
Transtorno do Espectro Autista
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Mol Biol Rep
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Turquia