{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:56:40Z","timestamp":1790740600193,"version":"4.1.0"},"reference-count":5,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment. In this study, we aimed to evaluate the clinical, genetic, and brain imaging findings of cases diagnosed with MCPH. <b><i>Methods:<\/i><\/b> Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families including cases with suspected MCPH diagnosis. <b><i>Results:<\/i><\/b> Genetic diagnosis related to MCPH was provided in 11\/39 (28.2%) of these families including 13\/41 cases (31.7%). Variants of the <i>WDR62<\/i> gene were the most common (61.5%) cause, and variants of the <i>ASPM<\/i> gene were the second most common cause (38.5%). We have found 6 novel variants and 4 previously reported variants in <i>ASPM<\/i> and <i>WDR62<\/i> genes. Main brain imaging findings in our cases were lissencephaly, polymicrogyria, schizencephaly, pachygyria, and cortical dysplasia. Genetic counseling in 2 families whose genetic diagnosis was determined prevented them from having another child with MCPH. <b><i>Discussion\/Conclusion:<\/i><\/b> Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling. <\/jats:p>","DOI":"10.1159\/000524391","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T21:00:36Z","timestamp":1651093236000},"page":"363-369","source":"Crossref","is-referenced-by-count":8,"title":["Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM<\/i><\/b> and <b><i>WDR62<\/i><\/b> Genes"],"prefix":"10.1159","volume":"13","author":[{"given":"Hilmi","family":"Bolat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safiye G.","family":"Sa\u011fer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9647-8970","authenticated-orcid":false,"given":"Ayberk","family":"T\u00fcrky\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper H.","family":"\u00c7ebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Ak\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0584-8866","authenticated-orcid":false,"given":"H\u00fcseyin","family":"Onay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferda","family":"\u00d6zk\u0131nay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcl","family":"\u00dcnsel-Bolat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.570830"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200104000-00003"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.09.011"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2004.01.003"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1601448"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/524391","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/524391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:01:52Z","timestamp":1745424112000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000524391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":5,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000524391","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}