{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T10:48:24Z","timestamp":1792234104925,"version":"4.4.0"},"reference-count":108,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T00:00:00Z","timestamp":1613260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["20-68-46042"],"award-info":[{"award-number":["20-68-46042"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons\u2014the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory steady-state response (ASSR). However, 40-Hz ASSR was not studied in relation to SHANK3 functioning. Here, we present a 15-year-old girl (SH01) with previously unreported duplication of the first seven exons of the SHANK3 gene (22q13.33). SH01\u2019s electroencephalogram (EEG) during 40-Hz click trains of 500 ms duration binaurally presented with inter-trial intervals of 500\u2013800 ms were compared with those from typically developing children (n = 32). SH01 was diagnosed with mild mental retardation and learning disabilities (F70.88), dysgraphia, dyslexia, and smaller vocabulary than typically developing (TD) peers. Her clinical phenotype resembled the phenotype of previously described patients with 22q13.33 microduplications (\u224830 reported so far). SH01 had mild autistic symptoms but below the threshold for ASD diagnosis and microcephaly. No seizures or MRI abnormalities were reported. While SH01 had relatively preserved auditory event-related potential (ERP) with slightly attenuated P1, her 40-Hz ASSR was totally absent significantly deviating from TD\u2019s ASSR. The absence of 40-Hz ASSR in patients with microduplication, which affected the SHANK3 gene, indicates deficient temporal resolution of the auditory system, which might underlie language problems and represent a neurophysiological biomarker of SHANK3 abnormalities.<\/jats:p>","DOI":"10.3390\/ijms22041898","type":"journal-article","created":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T02:32:23Z","timestamp":1613356343000},"page":"1898","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication"],"prefix":"10.3390","volume":"22","author":[{"given":"Anastasia K.","family":"Neklyudova","sequence":"first","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina V.","family":"Portnova","sequence":"additional","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5714-2040","authenticated-orcid":false,"given":"Anna B.","family":"Rebreikina","sequence":"additional","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8491-0228","authenticated-orcid":false,"given":"Victoria Yu","family":"Voinova","sequence":"additional","affiliation":[{"name":"Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia"},{"name":"Mental Health Research Center, 117152 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana G.","family":"Vorsanova","sequence":"additional","affiliation":[{"name":"Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia"},{"name":"Mental Health Research Center, 117152 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan Y.","family":"Iourov","sequence":"additional","affiliation":[{"name":"Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia"},{"name":"Mental Health Research Center, 117152 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4005-9512","authenticated-orcid":false,"given":"Olga V.","family":"Sysoeva","sequence":"additional","affiliation":[{"name":"Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/S0896-6273(00)80809-0","article-title":"Shank, a Novel Family of Postsynaptic Density Proteins that Binds to the NMDA Receptor\/PSD-95\/GKAP Complex and Cortactin","volume":"23","author":"Naisbitt","year":"1999","journal-title":"Neuron"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1242\/jcs.113.11.1851","article-title":"The Shank Family of Scaffold Proteins","volume":"113","author":"Sheng","year":"2000","journal-title":"J. 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