{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T21:19:26Z","timestamp":1769203166324,"version":"3.49.0"},"reference-count":15,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"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":"<jats:p>Bi-allelic mutations in the &lt;i&gt;TUBGCP4&lt;\/i&gt; gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous &lt;i&gt;TUBGCP4&lt;\/i&gt; variants in homozygous state: c.1746G&amp;#x3e;T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of &lt;i&gt;TUBGCP4&lt;\/i&gt;. These results broaden the clinical spectrum of this new syndrome and suggest that &lt;i&gt;TUBGCP4&lt;\/i&gt; bi-allelic mutations may underlie complex neurodevelopmental disorders. <\/jats:p>","DOI":"10.1159\/000519365","type":"journal-article","created":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T22:00:36Z","timestamp":1638482436000},"page":"165-170","source":"Crossref","is-referenced-by-count":4,"title":["Bi-Allelic c.1746G&amp;#x3e;T; p.Leu582= Variants in &lt;b&gt;&lt;i&gt;TUBGCP4&lt;\/i&gt;&lt;\/b&gt; in a Boy with Autism: Clinical Data and Literature Review"],"prefix":"10.1159","volume":"13","author":[{"given":"Daniel","family":"Mart\u00edn Fern\u00e1ndez-Mayoralas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacobo","family":"Albert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"L\u00f3pez-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar Jim\u00e9nez","family":"de la Pe\u00f1a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Laura","family":"Fern\u00e1ndez-Perrone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Jim\u00e9nez de Domingo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Calleja-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Mart\u00ednez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"\u00c1lvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Fern\u00e1ndez-Ja\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,12,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12759"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1747084"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.170266"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2083"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.263"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2015.199"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.017"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.011"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.13.2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20180028"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519365","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:25:12Z","timestamp":1745421912000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,2]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2,28]]},"published-print":{"date-parts":[[2022,3,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000519365","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,2]]}}}