{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:28:09Z","timestamp":1777534089562,"version":"3.51.4"},"reference-count":172,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T00:00:00Z","timestamp":1630627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["785907"],"award-info":[{"award-number":["785907"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007601","name":"Horizon 2020","doi-asserted-by":"publisher","award":["945539"],"award-info":[{"award-number":["945539"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["156791"],"award-info":[{"award-number":["156791"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:p>Impaired phonological processing is a leading symptom of multifactorial language and learning disorders suggesting a common biological basis. Here we evaluated studies of dyslexia, dyscalculia, specific language impairment (SLI), and the logopenic variant of primary progressive aphasia (lvPPA) seeking for shared risk genes in Broca\u2019s and Wernicke\u2019s regions, being key for phonological processing within the complex language network. The identified \u201cphonology-related genes\u201d from literature were functionally characterized using Atlas-based expression mapping (JuGEx) and gene set enrichment. Out of 643 publications from the last decade until now, we extracted 21 candidate genes of which 13 overlapped with dyslexia and SLI, six with dyslexia and dyscalculia, and two with dyslexia, dyscalculia, and SLI. No overlap was observed between the childhood disorders and the late-onset lvPPA often showing symptoms of learning disorders earlier in life. Multiple genes were enriched in Gene Ontology terms of the topics learning (<jats:italic>CNTNAP2, CYFIP1, DCDC2, DNAAF4, FOXP2<\/jats:italic>) and neuronal development (<jats:italic>CCDC136, CNTNAP2, CYFIP1<\/jats:italic>, <jats:italic>DCDC2<\/jats:italic>, <jats:italic>KIAA0319<\/jats:italic>, <jats:italic>RBFOX2<\/jats:italic>, <jats:italic>ROBO1<\/jats:italic>). Twelve genes showed above-average expression across both regions indicating moderate-to-high gene activity in the investigated cortical part of the language network. Of these, three genes were differentially expressed suggesting potential regional specializations: <jats:italic>ATP2C2<\/jats:italic> was upregulated in Broca\u2019s region, while <jats:italic>DNAAF4<\/jats:italic> and <jats:italic>FOXP2<\/jats:italic> were upregulated in Wernicke\u2019s region. <jats:italic>ATP2C2<\/jats:italic> encodes a magnesium-dependent calcium transporter which fits with reports about disturbed calcium and magnesium levels for dyslexia and other communication disorders. <jats:italic>DNAAF4<\/jats:italic> (formerly known as <jats:italic>DYX1C1<\/jats:italic>) is involved in neuronal migration supporting the hypothesis of disturbed migration in dyslexia. <jats:italic>FOXP2<\/jats:italic> is a transcription factor that regulates a number of genes involved in development of speech and language. Overall, our interdisciplinary and multi-tiered approach provided evidence that genetic and transcriptional variation of <jats:italic>ATP2C2<\/jats:italic>, <jats:italic>DNAAF4<\/jats:italic>, and <jats:italic>FOXP2<\/jats:italic> may play a role in physiological and pathological aspects of phonological processing.<\/jats:p>","DOI":"10.3389\/fnins.2021.680762","type":"journal-article","created":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T10:42:26Z","timestamp":1630752146000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification of Phonology-Related Genes and Functional Characterization of Broca\u2019s and Wernicke\u2019s Regions in Language and Learning Disorders"],"prefix":"10.3389","volume":"15","author":[{"given":"Nina","family":"Unger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Heim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique I.","family":"Hilger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Bludau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Pieperhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven","family":"Cichon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Amunts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas W.","family":"M\u00fchleisen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"S55","DOI":"10.1086\/650525","article-title":"The phonological loop: a key innovation in human evolution.","volume":"51","author":"Aboitiz","year":"2010","journal-title":"Curr. 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