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...
This is a preview of subscription content, log in via an institution to check access.
References and Reading
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.
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
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.
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.
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.
Olincy, A., Blakeley-Smith, A., Johnson, L., et al. (2016). Brief report: Initial trial of Alpha7-nicotinic receptor stimulation in two adult patients with autism spectrum disorder. Journal of Autism and Developmental Disorders, 46, 3812–3817. https://doi.org/10.1007/s10803-016-2890-6.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Science+Business Media, LLC, part of Springer Nature
About this entry
Cite this entry
Schaaf, C.P., Gillentine, M.A. (2020). 15q13.3 Microdeletion Syndrome. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102376-2
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102376-2
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-6435-8
Online ISBN: 978-1-4614-6435-8
eBook Packages: Springer Reference Behavioral Science and PsychologyReference Module Humanities and Social SciencesReference Module Business, Economics and Social Sciences
Publish with us
Chapter history
-
Latest
15q13.3 Microdeletion Syndrome- Published:
- 29 May 2020
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102376-2
-
Original
15q13.3 Microdeletion Syndrome- Published:
- 12 March 2020
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102376-1