Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

15q13.3 Microdeletion Syndrome

  • Christian Patrick Schaaf
  • Madelyn A GillentineEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102376-1

Synonyms

Definition

15q13.3 microdeletion syndrome (OMIM 612001, DECIPHER coordinates: chr15: 30,901,306-32,445,407, hg19) is the result of heterozygous deletions at chromosome 15q13.3, ranging in size from ∼350 kb to 3.9 Mb. These deletions are mediated by nonallelic homologous recombination (NAHR) between four low copy repeat (LCR) elements: breakpoints (BPs) 3, 4, and 5, as well as the D-CHRNA7-LCR. The most common of these deletions, spanning 1.5 Mb to 2 Mb are mediated by BPs 4 and 5 and encompass six genes: FAN1, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7, as well as one microRNA: hsa-miR-211. Of these genes, CHRNA7 and OTUD7A are the top candidate genes (Yin et al. 2018; Gillentine and Schaaf 2015).

The estimated frequency of the most common 15q13.3 microdeletions is 1 in 5525 live births (0.19%) and is estimated to be higher (0.29%) among individuals with intellectual disability and idiopathic generalized epilepsy (1%) (Gillentine et al. 2018). However, these...

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References and Reading

  1. Cubells, J. F., DeOreo, E. H., Harvey, P. D., et al. (2011). Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. American Journal of Medical Genetics. Part A, 155, 805–810.  https://doi.org/10.1002/ajmg.a.33917.CrossRefGoogle Scholar
  2. Gillentine, M. A., Schaaf, C. P. (2015). The human clinical phenotypes of altered CHRNA7 copy number. Biochem. Pharmaacol, 97(4), 352–362.  https://doi.org/10.1016/j.bcp.2015.06.012
  3. Gillentine, M. A., Schaaf, C. P., & Patel, A. (2017). The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. American Journal of Medical Genetics. Part A, 173, 2485–2488.  https://doi.org/10.1002/ajmg.a.38328.CrossRefPubMedPubMedCentralGoogle Scholar
  4. Gillentine, M. A., Lupo, P. J., Stankiewicz, P., & Schaaf, C. P. (2018). An estimation of the prevalence of genomic disorders using chromosomal microarray data. Journal of Human Genetics, 63, 795–801.  https://doi.org/10.1038/s10038-018-0451-x.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Ihnatovych, I., Nayak, T. K., Ouf, A., et al. (2019). iPSC model of CHRFAM7A effect on α7 nicotinic acetylcholine receptor function in the human context. Translational Psychiatry, 9, 59.  https://doi.org/10.1038/s41398-019-0375-z.CrossRefPubMedPubMedCentralGoogle Scholar
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  7. Yin, J., Chen, W., Chao, E. S., et al. (2018). Otud7a knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome. American Journal of Human Genetics, 102, 296–308.  https://doi.org/10.1016/j.ajhg.2018.01.005.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Ziats, M. N., Goin-Kochel, R. P., Berry, L. N., et al. (2016). The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genetics in Medicine, 18, 1111–1118.  https://doi.org/10.1038/gim.2016.9.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  • Christian Patrick Schaaf
    • 1
  • Madelyn A Gillentine
    • 1
    Email author
  1. 1.Institute of Human GeneticsHeidelberg UniversityHeidelbergGermany