Display options
Cite
Erbay MF, Karayağmurlu A, Ravneberg B. Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication. Psychiatr Genet. 2021;31(6):246-249doi: 10.1097/YPG.0000000000000301.
Erbay, M. F., Karayağmurlu, A., & Ravneberg, B. (2021). Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication. Psychiatric genetics, 31(6), 246-249. https://doi.org/10.1097/YPG.0000000000000301
Erbay, Muhammed Furkan, et al. "Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication." Psychiatric genetics vol. 31,6 (2021): 246-249. doi: https://doi.org/10.1097/YPG.0000000000000301
Erbay MF, Karayağmurlu A, Ravneberg B. Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication. Psychiatr Genet. 2021 Dec 01;31(6):246-249. doi: 10.1097/YPG.0000000000000301. PMID: 34538867.
Copy Download .nbib Format: NLM
Share it on

Psychiatr Genet. 2021 Dec 01;31(6):246-249. doi: 10.1097/YPG.0000000000000301.

Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication.

Psychiatric genetics

Muhammed Furkan Erbay, Ali Karayağmurlu, Ravneberg

Affiliations

  1. Istanbul University Istanbul Faculty of Medicine, Child and Adolescent Psychiatry Clinic ?stanbul, Turkey.

PMID: 34538867 DOI: 10.1097/YPG.0000000000000301

Abstract

Etiopathogenesis of autism spectrum disorder (ASD) is highly heterogeneous. Genetic factors play a major role in the etiology of ASD, and 16p11.2 microdeletion is one of the best-known genetic abnormalities thought to be strongly linked to ASD. Conversely, 17q12 microduplication is observed relatively rarely, yet it is reported that 17q12 recurrent duplication also results in a predisposition to ASD. Additionally, 16p11.2 microdeletion is characterized by developmental delay, intellectual disability, ASD and seizures, while 17q12 recurrent duplication is thought to be related to intellectual disability, seizures, eye or vision problems and, rarely, cardiac and renal anomalies. It also has been linked to ASD, schizophrenia, aggression and self-injury. This paper presents two different genetic abnormalities and their relations to ASD. Two siblings were studied; in one of the siblings, maternally originated 17q12 duplication was identified, and paternally originated 16p11.2 microdeletion was identified in the other sibling. To the best of the authors' knowledge, the present paper is a rare case report which shows the coexistence of 17q12 duplication, clubfoot deformity and ASD as well as 16p11.2 microdeletion, spina bifida occulta and ASD.

Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

References

  1. Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, et al. (2012). Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am j Med Genet a 158A:1170–1177. - PubMed
  2. Dell’Edera D, Dilucca C, Allegretti A, Simone F, Lupo MG, Liccese C, Davanzo R (2018). 16p11.2 microdeletion syndrome: a case report. j Med Case Rep 12:90. - PubMed
  3. Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Disease Control and Prevention (CDC) (2014). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 63:1–21. - PubMed
  4. Fetit R, Price DJ, Lawrie SM, Johnstone M (2020). Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children. Psychiatr Genet 30:136–140. - PubMed
  5. Kleinendorst L, Sno M, van Haelst MM (2019). [A girl with 16p11.2 deletion syndrome]. Ned Tijdschr Geneeskd 163:D3441. - PubMed
  6. Masi A, DeMayo MM, Glozier N, Guastella AJ (2017). An overview of autism spectrum disorder, heterogeneity and treatment options. Neurosci Bull 33:183–193. - PubMed
  7. Mefford H, Mitchell E, Hodge J (2016). 17q12 Recurrent duplication. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. University of Washington, Seattle; 1993–2020. PMID: 26925472. - PubMed
  8. Miller DT, Chung W, Nasir R, Shen Y, Steinman KJ, Wu BL, Hanson E (2009). 16p11.2 Recurrent microdeletion. [updated 2015 Dec 10]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. University of Washington, Seattle; 1993–2021. PMID: 20301775. - PubMed
  9. Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, et al. (2016). 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Am j Med Genet a 170:2934–2942. - PubMed
  10. Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 15:399–407. - PubMed
  11. Sharma SR, Gonda X, Tarazi FI (2018). Autism spectrum disorder: classification, diagnosis and therapy. Pharmacol Ther 190:91–104. - PubMed
  12. Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, et al. (2017). Autism spectrum disorder: neuropathology and animal models. Acta Neuropathol 134:537–566. - PubMed
  13. Wiśniowiecka-Kowalnik B, Nowakowska BA (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. j Appl Genet 60:37–47. - PubMed
  14. Yin J, Schaaf CP (2017). Autism genetics - an overview. Prenat Diagn 37:14–30. - PubMed

Publication Types