References
Baig, D. N., Yanagawa, T., & Tabuchi, K. (2017). Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders. Brain Research Bulletin, 129, 82–90.
Belligni, E. F., Di Gregorio, E., Biamino, E., Calcia, A., Molinatto, C., Talarico, F., et al. (2012). 790 Kb microduplication in chromosome band 17p13. 1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism. European Journal of Medical Genetics, 55(3), 222–224.
Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., et al. (2010). Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genetics, 42(6), 489.
Breckpot, J., Vercruyssen, M., Weyts, E., Vandevoort, S., D'Haenens, G., Van Buggenhout, G., et al. (2016). Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. European Journal of Medical Genetics, 59(9), 436–443.
Cao, X., & Tabuchi, K. (2017). Functions of synapse adhesion molecules neurexin/neuroligins and neurodevelopmental disorders. Neuroscience Research, 116, 3–9.
Dong, H., Sharma, M., Zhou, H. X., & Cross, T. A. (2012). Glycines: Role in α-helical membrane protein structures and a potential indicator of native conformation. Biochemistry, 51(24), 4779–4789.
Egger, J. I., Verhoeven, W. M., Groenendijk-Reijenga, R., & Kant, S. G. (2017). Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: Successful treatment with lithium. Case Reports, 2017, bcr-2017.
Ellul, P., & Choucha, W. (2015). Neurobiological approach of catatonia and treatment perspectives. Frontiers in Psychiatry, 6, 182.
Hare, D. J., & Malone, C. (2004). Catatonia and autistic spectrum disorders. Autism, 8(2), 183–195.
Howell, B. W., & Smith, K. M. (2019). Synaptic structural protein dysfunction leads to altered excitation inhibition ratios in models of autism spectrum disorder. Pharmacological Research, 139, 207–214.
Kuroda, Y., Ohashi, I., Tominaga, M., Saito, T., Nagai, J. I., Ida, K., et al. (2014). De novo duplication of 17p13. 1–p13. 2 in a patient with intellectual disability and obesity. American Journal of Medical Genetics Part A, 164(6), 1550–1554.
Mooneyham, K. A., Holden, K. R., Cathey, S., Dwivedi, A., Dupont, B. R., & Lyons, M. J. (2014). Neurodevelopmental delays and macrocephaly in 17p13. 1 microduplication syndrome. American Journal of Medical Genetics Part A, 164(11), 2887–2891.
Parente, D. J., Garriga, C., Baskin, B., Douglas, G., Cho, M. T., Araujo, G. C., et al. (2017). Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity. American Journal of Medical Genetics Part A, 173(1), 213–216.
Rapoport, J., Chavez, A., Greenstein, D., Addington, A., & Gogtay, N. (2009). Autism spectrum disorders and childhood-onset schizophrenia: Clinical and biological contributions to a relation revisited. Journal of the American Academy of Child & Adolescent Psychiatry, 48(1), 10–18.
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019). CADD: Predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Research, 47(D1), D886–D894.
Schwarz, J. M., Cooper, D. N., Schuelke, M., & Seelow, D. (2014). MutationTaster2: Mutation prediction for the deep-sequencing age. Nature Methods, 11(4), 361–362.
Serret, S., Thümmler, S., Dor, E., Vesperini, S., Santos, A., & Askenazy, F. (2015). Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder. BMC Psychiatry, 15(1), 107.
Walton, J. R., & Coury, D. L. (2015). Medical comorbidities in autism spectrum disorder. In Clinician’s manual on autism spectrum disorder (pp. 33–41). Adis, Cham.
Wing, L., & Shah, A. (2000). Catatonia in autistic spectrum disorders. The British Journal of Psychiatry, 176(4), 357–362.
Yan, J., Oliveira, G., Coutinho, A., Yang, C., Feng, J., Katz, C., et al. (2005). Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Molecular Psychiatry, 10(4), 329–332.
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Material preparation was performed by AS. The first draft of the manuscript was written by AS, and all authors commented on previous versions of the manuscript. ML prepared the inpatient psychiatry management portion of the paper. Protein modeling studies were completed by DC. The protein modeling section of the paper was written by DC. Protein illustrations were completed by DC and KA. All authors read and approved the final manuscript.
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Shillington, A., Lamy, M., Vawter-Lee, M. et al. Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?. J Autism Dev Disord 51, 371–376 (2021). https://doi.org/10.1007/s10803-020-04531-2
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DOI: https://doi.org/10.1007/s10803-020-04531-2