Interaction of Multiple Gene Variants Might Be Associated with Autism Spectrum Disorders Unraveled by Next Generation Sequencing Data
[1]
Sarah Bailur, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India; Department of Pediatrics, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[2]
Ankita Rao, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[3]
Gayatri Iyer, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[4]
Neyha Zainab Abbas, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[5]
Suruti Abirami, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[6]
Bhumika Bhagwani, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[7]
Vaishnavi Suresh, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[8]
Yashodhara Bhattacharya, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
[9]
Vasavi Mohan, Department of Genetics and Molecular Medicine, Vasavi Medical & Research Centre, Lakdikapul, Hyderabad, India.
[10]
Qurratulain Hasan, Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad, India.
Autism spectrum disorder (ASD) is a childhood onset, lifelong disorder that impacts socio-communicative development and is also characterized by rigidity and ritualistic/ repetitive patterns of behaviour. It is estimated that about 10 percent of the children with ASD have an identifiable co-occurring genetic, metabolic or neurologicaletiology. AIM: To evaluate children with autism by next generation sequencing and identifying variations in a panel of 82 genes associated with this disorder. RESULTS: A sequence variation in 29/82 candidate genes were identified. The genes were located on chromosome 6, 7, 8, 9, 11, 12, 14, 15, 16, 17, 18, 22 and X. Maximum genes were located on chromosome 7 (AUTS2, HOXA1, CNTNAP2, DOCK4, RELN and CHD7), followed by chromosome 11 (BDNF, FOLR1, SHANK2 and ACTN4) and X (OPHN1, ATRX, FMR1 and NLGN3). The most commonly seen variants were in: CHD7, ANKRD11, DOCK4, VPS13B, SHANK3, RBFOX1, RELN, LAMC3 genes. 83% (10/12) children had more than one sequence variation – one was identified with a single sequence variation in BDNF and was diagnosed as Atypical Retts Syndrome. Variants found on the X chromosome: One female had 3 heterozygous variations (OPHN1, ATRX, FMR1) and all were found to be interconnected on STRING analysis, while another female was homozygous for ATRX sequence variation and a male was Hemizygous (NLGN3). CONCLUSION: This preliminary study indicates that Interaction of Multiple Gene variants might be involved in the etiology of Autism spectrum disorder.
Autism, Next Generation Sequencing, String Analysis
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