Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder
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...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2018/8231547 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832554713365610496 |
|---|---|
| author | Chuphong Thongnak Areerat Hnoonual Duangkamol Tangviriyapaiboon Suchaya Silvilairat Apichaya Puangpetch Ekawat Pasomsub Wasun Chantratita Pornprot Limprasert Chonlaphat Sukasem |
| author_facet | Chuphong Thongnak Areerat Hnoonual Duangkamol Tangviriyapaiboon Suchaya Silvilairat Apichaya Puangpetch Ekawat Pasomsub Wasun Chantratita Pornprot Limprasert Chonlaphat Sukasem |
| author_sort | Chuphong Thongnak |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7c82c0961eea489080bc0dc09371a0fd |
| institution | Kabale University |
| issn | 2314-436X 2314-4378 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-7c82c0961eea489080bc0dc09371a0fd2025-02-03T05:50:47ZengWileyInternational Journal of Genomics2314-436X2314-43782018-01-01201810.1155/2018/82315478231547Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum DisorderChuphong Thongnak0Areerat Hnoonual1Duangkamol Tangviriyapaiboon2Suchaya Silvilairat3Apichaya Puangpetch4Ekawat Pasomsub5Wasun Chantratita6Pornprot Limprasert7Chonlaphat Sukasem8Division of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandGraduate Program in Biomedical Sciences, Faculty of Medicine, Prince of Songkla University, Songkhla, ThailandRajanagarindra Institute of Child Development, Chiang Mai, ThailandDivision of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandDivision of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandExcellence Center for Genomic Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandExcellence Center for Genomic Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandHuman Genetics Unit, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, ThailandDivision of Pharmacogenomics and Personalized Medicine, Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandAutism 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.http://dx.doi.org/10.1155/2018/8231547 |
| spellingShingle | Chuphong Thongnak Areerat Hnoonual Duangkamol Tangviriyapaiboon Suchaya Silvilairat Apichaya Puangpetch Ekawat Pasomsub Wasun Chantratita Pornprot Limprasert Chonlaphat Sukasem Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder International Journal of Genomics |
| title | Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder |
| title_full | Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder |
| title_fullStr | Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder |
| title_full_unstemmed | Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder |
| title_short | Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder |
| title_sort | whole exome sequencing identifies one de novo variant in the fgd6 gene in a thai family with autism spectrum disorder |
| url | http://dx.doi.org/10.1155/2018/8231547 |
| work_keys_str_mv | AT chuphongthongnak wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT areerathnoonual wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT duangkamoltangviriyapaiboon wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT suchayasilvilairat wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT apichayapuangpetch wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT ekawatpasomsub wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT wasunchantratita wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT pornprotlimprasert wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder AT chonlaphatsukasem wholeexomesequencingidentifiesonedenovovariantinthefgd6geneinathaifamilywithautismspectrumdisorder |