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To date, only 15 patients have been diagnosed with ALG12\u2010CDG globally. Due to a newborn Slovak patient's clinical and biochemical abnormalities, the isoelectric focusing of transferrin was performed with observed significant hypoglycosylation typical of CDG I. Furthermore, analysis of neutral serum N\u2010glycans by mass spectrometry revealed the accumulation of GlcNAc2Man5\u20137 and decreased levels of GlcNAc2Man8\u20139, which indicated impaired ALG12 enzymatic activity. Genetic analysis of the coding regions of the <jats:italic>ALG12<\/jats:italic> gene of the patient revealed a novel homozygous substitution mutation c.1439T&gt;C p.(Leu480Pro) within Exon 10. Furthermore, both of the patient's parents and his twin sister were asymptomatic heterozygous carriers of the variant. This comprehensive genomic and glycomic approach led to the confirmation of the <jats:italic>ALG12<\/jats:italic> pathogenic variant responsible for the clinical manifestation of the disorder in the patient described.<\/jats:p>","DOI":"10.1002\/ajmg.a.62474","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T08:14:16Z","timestamp":1630484056000},"page":"3494-3501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel homozygous mutation in the human <scp><i>ALG12<\/i><\/scp> gene results in an aberrant profile of oligomannose N\u2010glycans in patient's serum"],"prefix":"10.1002","volume":"185","author":[{"given":"Jana","family":"Ziburov\u00e1","sequence":"first","affiliation":[{"name":"Department of Glycobiology Slovak Academy of Sciences, Institute of Chemistry  Bratislava Slovakia"},{"name":"Department of Clinical Genetics St. Elizabeth Cancer Institute  Bratislava 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