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The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder

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  1. Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, et al. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and 2 human models of the 15q13.3 microdeletion syndrome 3. Mol Psychiatry. 2022. Online ahead of print.

  2. Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, et al. A large data resource of genomic copy number variation across neurodevelopmental disorders. npj Genom Med. 2019;4:1–13.

    Article  CAS  Google Scholar 

  3. van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. in GeneReviews. University of Washington, Seattle Copyright © 1993–2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., 1993.

  4. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, et al. OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome. Am J Hum Genet. 2018;102:278–95.

    Article  CAS  Google Scholar 

  5. Kozlova A, Zhang S, Kotlar AV, Jamison B, Zhang H, Shi S, et al. Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons. Am J Hum Genet. 2022;109:1500–19.

    Article  CAS  Google Scholar 

  6. Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, et al. Otud7a knockout mice recapitulate many neurological features of 15q13.3 microdeletion syndrome. Am J Hum Genet. 2018;102:296–308.

    Article  CAS  Google Scholar 

  7. Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Clin Genet. 2013;83:345–51.

    Article  CAS  Google Scholar 

  8. Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, et al. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009;41:1269–71.

    Article  CAS  Google Scholar 

  9. Yin J, Chen W, Yang H, Xue M, Schaaf CP. Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. Sci Rep. 2017;7:39941.

  10. Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, et al. Functional consequences of CHRNA7 copy-number alterations in induced pluripotent stem cells and neural progenitor cells. Am J Hum Genet. 2017;101:874–87.

    Article  CAS  Google Scholar 

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NS, UC, EJHvH and NNK wrote the manuscript and edited the manuscript.

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Correspondence to Nael Nadif Kasri.

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Scheefhals, N., Ciptasari, U., van Hugte, E.J.H. et al. The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder. Mol Psychiatry (2023).

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