{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:24:21Z","timestamp":1761719061932,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"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":[[2021]]},"abstract":"<jats:p>Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, few of them show autosomal dominant or X-linked inheritance. ALG12-CDG is an autosomal recessive inherited defect caused by a deficiency in the \u03b1-mannosyltransferase, dolichyl-P-mannose: Man7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase (mannosyltransferase 8), which determines Man7GlcNAc2-PP-dolichol accumulation in tissues including fibroblasts. The clinical features of ALG12-CDG include dysmorphic features, developmental delay, hypotonia, progressive microcephaly, hypogammaglobulinemia, coagulopathies, and failure to thrive. Herein, we describe the case of a Sicilian patient with a milder phenotype bearing an &lt;i&gt;ALG12&lt;\/i&gt; homozygous mutation. To date, including this patient, only 16 cases have been described with this form of CDG. Furthermore, our study contributes to understanding the milder ALG12-CDG cases and to further expanding the genotype-phenotype spectrum. <\/jats:p>","DOI":"10.1159\/000516606","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T21:00:57Z","timestamp":1626814857000},"page":"327-332","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Homozygous &lt;b&gt;&lt;i&gt;ALG12&lt;\/i&gt;&lt;\/b&gt; Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype"],"prefix":"10.1159","volume":"12","author":[{"given":"Antonio Gennaro","family":"Nicotera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Spoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Cal\u00ec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giusi","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonino","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirella","family":"Vinci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Barone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Di Rosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano Antonino","family":"Musumeci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1023\/a:1017249723165"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M203285200"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1304"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0279-y"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2019.1692361"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.11.003"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.19.2331"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00044-7"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9954-9"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799343"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10719-019-09890-2"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.08.007"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516606","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:57:18Z","timestamp":1745420238000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000516606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,8,31]]},"published-print":{"date-parts":[[2021,8,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000516606","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2021]]}}}