The Study of Whole Genome Sequencing in  Monozygotic Twins with Autism Spectrum Disorder

Coşkunpınar Ender; Bozdağı Günal Özlem

doi:https://dx.doi.org/10.26650/experimed.1067169

Araştırma Makalesi

DOI :10.26650/experimed.1067169 IUP :10.26650/experimed.1067169 Tam Metin (PDF)

The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder

Objective: Autism spectrum disorder (ASD), the most well-known type of neurodevelopmental disorder, is a mental development disorder. Since there is no definitive biomarker for ASD, diagnosis is made based on the assessment of the patient's behavior. In addition to behavioral and social disorders, genetic factors are also important in ASD. Materials and Methods: In the study, variant analyses were performed by whole genome sequencing (WGS) method, as well as evaluating the clinical features of two monozygotic twin couples (one discordant and the other concordant). Results: According to the WGS results, thirteen high pathogenic variants were detected in twenty-nine novel candidate genes. Candidate genes include MEAF6, OR2T8, ABI2, PDE4D, GLIS3, DRD4, LPXN, FAM186A, NEK3, GOLGA8A, SSC5D, ARMCX4, ADAR, LRP1B, DAP, LYRM7, MUC12, CNTNAP3B, TCP11L1, OR8B3, KLRC3, and DPP9. Conclusion: We speculate that clinical evaluations and examination of genetic changes are important for understanding the disease in individuals with ASD and their families.

Anahtar Kelimeler: Autism spectrum disorder, MZ twins, whole-genome-sequencing (WGS), genetics

Referanslar

1. American Psychiatric Association. Diagnostic and statistical man-ual of mental disorders: DSM-5. Arlington, VA; 2013. google scholar
2. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Autism spectrum disorder. Nat Rev Dis Primers 2020; 6(1): 5. [CrossRef] google scholar
3. Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M, et al. Prevalence of autism spectrum disorder among children aged 8 years autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveill Summ 2020; 69(4): 1-12. Erratum in: MMWR Morb Mortal Wkly Rep. 2020 Apr 24; 69(16): 503. google scholar
4. Tan C, Frewer V, Cox G, Williams K, Ure A. Prevalence and age of onset of regression in children with autism spectrum disorder: A systematic review and meta-analytical update. Autism Res 2021; 14(3): 582-98. [CrossRef] google scholar
5. Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet 2018; 392(10146): 508-20. [CrossRef] google scholar
6. Sharma SR, Gonda X, Tarazi FI. Autism Spectrum Disorder: Classifi-cation, diagnosis and therapy. Pharmacol Ther 2018; 190: 91-104. [CrossRef] google scholar
7. Tsai CH, Chen KL, Li HJ, Chen KH, Hsu CW, Lu CH, et al. The symp-toms of autism including social communication deficits and repeti-tive and restricted behaviors are associated with different emotion-al and behavioral problems. Sci Rep 2020; 10(1): 20509. [CrossRef] google scholar
8. Spence SJ, Sharifi P, Wiznitzer M. Autism spectrum disorder: screening, diagnosis, and medical evaluation. Semin Pediatr Neu-rol 2004; 11(3): 186-95. [CrossRef] google scholar
9. Xiao Z, Qiu T, Ke X, Xiao X, Xiao T, Liang F, et al. Autism spectrum disorder as early neurodevelopmental disorder: evidence from the brain imaging abnormalities in 2-3 years old toddlers. J Au-tism Dev Disord 2014; 44(7): 1633-40. [CrossRef] google scholar
10. Mannion A, Leader G. Comorbidity in autism spectrum disorder: A literature review. Res Autism Spectr Disord 2013; 7(12): 1595-616. [CrossRef] google scholar
11. Holmes H, Sawer F, Clark M. Autism spectrum disorders and epi-lepsy in children: A commentary on the occurrence of autism in epilepsy; how it can present differently and the challenges associ-ated with diagnosis. Epilepsy Behav 2021; 117: 107813. [CrossRef] google scholar
12. Imamura A, Morimoto Y, Ono S, Kurotaki N, Kanegae S, Yamamoto N, et al. Genetic and environmental factors of schizophrenia and autism spectrum disorder: insights from twin studies. J Neural Transm (Vienna) 2020; 127(11): 1501-15. [CrossRef] google scholar
13. Colvert E, Tick B, McEwen F, Stewart C, Curran SR, Woodhouse E, et al. Heritability of Autism Spectrum Disorder in a UK popu-lation-based twin sample. JAMA Psychiatry 2015; 72(5): 415-23. [CrossRef] google scholar
14. Hegarty JP 2nd, Pegoraro LFL, Lazzeroni LC, Raman MM, Hallmay-er JF, Monterrey JC, et al. Genetic and environmental influences on structural brain measures in twins with autism spectrum disor-der. Mol Psychiatry 2020; 25(10): 2556-66. [CrossRef] google scholar
15. Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, et al. Etiology of Autism Spectrum Disorders and Autistic Traits Over Time. JAMA Psychiatry 2020; 77(9): 936-43. [CrossRef] google scholar
16. Wisniowiecka-Kowalnik B, Nowakowska BA. Genetics and epi-genetics of autism spectrum disorder-current evidence in the field. J Appl Genet 2019; 60(1): 37-47. [CrossRef] google scholar
17. Ramaswami G, Geschwind DH. Genetics of autism spectrum disor-der. Handb Clin Neurol 2018; 147: 321-9. [CrossRef] google scholar
18. Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, et al. Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Sci Rep 2017; 7: 44155. [CrossRef] google scholar
19. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014; 515(7526): 209-15. [CrossRef] google scholar
20. Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassing-er C, et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry 2018; 23(4): 973-84. [CrossRef] google scholar
21. Mamoor S. Meaf6 is differentially expressed in the brains of pa-tients with schizophrenia 2020. [CrossRef] google scholar
22. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci 2017; 20(9): 1217-24. Erratum in: Nat Neurosci 2020 Sep; 23(9): 1176. google scholar
23. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA, Swanson JM, et al. Sequence variants of the DRD4 gene in autism: further evi-dence that rare DRD4 7R haplotypes are ADHD specific. Am J Med Genet B Neuropsychiatr Genet 2005; 136B(1): 33-5. google scholar
24. Ptacek R, Kuzelova H, Stefano GB. Dopamine D4 receptor gene DRD4 and its association with psychiatric disorders. Med Sci Monit 2011; 17(9): RA215-20. google scholar
25. Reiersen AM, Todorov AA. Association between DRD4 genotype and Autistic Symptoms in DSM-IV ADHD. J Can Acad Child Ado-lesc Psychiatry 2011; 20(1): 15-21. google scholar
26. Gadow KD, DeVincent CJ, Olvet DM, Pisarevskaya V, Hatchwell E. Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive be-haviors in children with autism spectrum disorder. Eur J Neurosci 2010; 32(6): 1058-65. [CrossRef] google scholar
27. Gadow KD, DeVincent CJ, Pisarevskaya V, Olvet DM, Xu W, Mendell NR, et al. Parent-child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psy-chiatry 2010; 34(7): 1208-14. [CrossRef] google scholar
28. Zamarbide M, Mossa A, Munoz-Llancao P, Wilkinson MK, Pond HL, Oaks AW, et al. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Biol Psychiatry 2019; 85(9): 760-8. [CrossRef] google scholar
29. Kaeffer J, Zeder-Lutz G, Simonin F, Lecat S. GPRASP/ARMCX protein family: potential involvement in health and diseases revealed by their novel interacting partners. Curr Top Med Chem 2021; 21(3): 227-54. [CrossRef] google scholar
30. Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, et al. Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males. Am J Med Genet B Neuropsychiatr Genet 2019; 180(6): 335-40. [CrossRef] google scholar
31. Tran SS, Jun HI, Bahn JH, Azghadi A, Ramaswami G, Van Nostrand EL, et al. Widespread RNA editing dysregulation in brains from au-tistic individuals. Nat Neurosci 2019; 22(1): 25-36. [CrossRef] google scholar
32. Ansell BRE, Thomas SN, Bonelli R, Munro JE, Freytag S, Bahlo M. A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism. RNA 2021; 27(12): 1482-96. [CrossRef] google scholar
33. Mulatinho MV, de Carvalho Serao CL, Scalco F, Hardekopf D, Pe-kova S, Mrasek K, et al. Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report. Mol Cytogenet 2012; 5(1): 30. [CrossRef] google scholar
34. Carvalho AF, Solmi M, Sanches M, Machado MO, Stubbs B, Ajnaki-na O, et al. Evidence-based umbrella review of 162 peripheral bio-markers for major mental disorders. Transl Psychiatry 2020; 10(1): 152. [CrossRef] google scholar
35. Bouchard MF, Chevrier J, Harley KG, Kogut K, Vedar M, Calderon N, et al. Prenatal exposure to organophosphate pesticides and IQ in 7-year-old children. Environ Health Perspect 2011; 119(8): 118995. [CrossRef] google scholar

Atıflar

Biçimlendirilmiş bir atıfı kopyalayıp yapıştırın veya seçtiğiniz biçimde dışa aktarmak için seçeneklerden birini kullanın

DIŞA AKTAR

APA

Coşkunpınar, E., & Bozdağı Günal, Ö. (2022). The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder. Experimed, 12(2), 49-60. https://doi.org/10.26650/experimed.1067169

AMA

Coşkunpınar E, Bozdağı Günal Ö. The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder. Experimed. 2022;12(2):49-60. https://doi.org/10.26650/experimed.1067169

ABNT

Coşkunpınar, E.; Bozdağı Günal, Ö. The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder. Experimed, [Publisher Location], v. 12, n. 2, p. 49-60, 2022.

Chicago: Author-Date Style

Coşkunpınar, Ender, and Özlem Bozdağı Günal. 2022. “The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder.” Experimed 12, no. 2: 49-60. https://doi.org/10.26650/experimed.1067169

Chicago: Humanities Style

Coşkunpınar, Ender, and Özlem Bozdağı Günal. “The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder.” Experimed 12, no. 2 (Apr. 2023): 49-60. https://doi.org/10.26650/experimed.1067169

Harvard: Australian Style

Coşkunpınar, E & Bozdağı Günal, Ö 2022, 'The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder', Experimed, vol. 12, no. 2, pp. 49-60, viewed 1 Apr. 2023, https://doi.org/10.26650/experimed.1067169

Harvard: Author-Date Style

Coşkunpınar, E. and Bozdağı Günal, Ö. (2022) ‘The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder’, Experimed, 12(2), pp. 49-60. https://doi.org/10.26650/experimed.1067169 (1 Apr. 2023).

MLA

Coşkunpınar, Ender, and Özlem Bozdağı Günal. “The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder.” Experimed, vol. 12, no. 2, 2022, pp. 49-60. [Database Container], https://doi.org/10.26650/experimed.1067169

Vancouver

Coşkunpınar E, Bozdağı Günal Ö. The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder. Experimed [Internet]. 1 Apr. 2023 [cited 1 Apr. 2023];12(2):49-60. Available from: https://doi.org/10.26650/experimed.1067169 doi: 10.26650/experimed.1067169

ISNAD

Coşkunpınar, Ender - Bozdağı Günal, Özlem. “The Study of Whole Genome Sequencing in Monozygotic Twins with Autism Spectrum Disorder”. Experimed 12/2 (Apr. 2023): 49-60. https://doi.org/10.26650/experimed.1067169

Cilt 12, Sayı 22022, S. 49-60

ZAMAN ÇİZELGESİ

Gönderim	16.03.2022
Kabul	09.05.2022
Çevrimiçi Yayınlanma	11.08.2022

LİSANS

Attribution-NonCommercial (CC BY-NC)

This license lets others remix, tweak, and build upon your work non-commercially, and although their new works must also acknowledge you and be non-commercial, they don’t have to license their derivative works on the same terms.

Experimed