Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder
Joint Authors
Limprasert, Pornprot
Puangpetch, Apichaya
Sukasem, Chonlaphat
Thongnak, Chuphong
Tangviriyapaiboon, Duangkamol
Silvilairat, Suchaya
Pasomsub, Ekawat
Hnoonual, Areerat
Chantratita, Wasan
Source
International Journal of Genomics
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-17
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear.
Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases.
The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique.
Whole-exome sequencing was performed with autism-affected children from two unrelated families.
Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline including annotation and filtering process to identify candidate variants.
Candidate variants were validated, and the segregation study with other family members was performed using Sanger sequencing.
This study identified a possible causative variant for ASD, c.2951G>A, in the FGD6 gene.
We demonstrated the potential for ASD genetic variants associated with ASD using whole-exome sequencing and a bioinformatics filtering procedure.
These techniques could be useful in identifying possible causative ASD variants, especially in cases in which variants cannot be identified by other techniques.
American Psychological Association (APA)
Thongnak, Chuphong& Hnoonual, Areerat& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. 2018. Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder. International Journal of Genomics،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1172877
Modern Language Association (MLA)
Thongnak, Chuphong…[et al.]. Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder. International Journal of Genomics No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1172877
American Medical Association (AMA)
Thongnak, Chuphong& Hnoonual, Areerat& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder. International Journal of Genomics. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1172877
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172877