{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:15:54Z","timestamp":1790180154431,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T00:00:00Z","timestamp":1727049600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and\/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG\u20101 syndromes, most of which are inherited as autosomal recessive traits, although X\u2010linked inheritance has also been reported. Pathogenic variants in the asparagine\u2010linked glycosylation 13 homolog (<jats:italic>ALG13<\/jats:italic>) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36). The NM_001099922.3:c.320A&gt;G; p.(Asn107Ser) variant is the most frequently described pathogenic variant in <jats:italic>ALG13<\/jats:italic>, with 59 females and 2 males with this variant reported to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on a male with a de novo, hemizygous variant in <jats:italic>ALG13<\/jats:italic>: c.320A&gt;G; p.(Asn107Ser), whose phenotype resembles that of two previously reported males with the same variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All three males have a de novo mutation, infantile spasms, DEE, drug\u2010resistant epilepsy, intellectual disability, dysmorphic findings, recurrent infections, skeletal anomalies, brain abnormalities and a movement disorder: a phenotype not consistently reported in males with other pathogenic variants in <jats:italic>ALG13<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The similarity of phenotype in the three males with the c.320A&gt;G variant in <jats:italic>ALG13<\/jats:italic>, suggests a possible genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70010","type":"journal-article","created":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T14:35:50Z","timestamp":1727102150000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Similarity of Phenotype in Three Male Patients With the c.<scp>320A<\/scp>&gt;G Variant in <i>ALG13<\/i>: Possible Genotype\u2013Phenotype Correlation"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1264-5004","authenticated-orcid":false,"given":"Rebecca","family":"Finnegan","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Children's Health Ireland at Crumlin  Dublin 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