{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T11:16:09Z","timestamp":1780658169813,"version":"3.54.1"},"reference-count":19,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,10,1]]},"abstract":"<jats:p>Deficiency of \u03b2-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of age, and survivors showed a severe psychomotor retardation. We report on 7 patients with psychomotor delay, microcephaly, strabismus and coagulation abnormalities, seizures and abnormal fat distribution. Four children had a stable clinical course, two had visual impairment, and 1 had hearing loss. Thrombotic and vascular events led to deterioration of the clinical outcome in 2 patients. Four novel ALG1 mutations were identified. Pathogenicity was determined in alg1 yeast mutants transformed with hALG1. Functional analyses showed all novel mutations representing hypomorphs associated with residual enzyme activity. We extend the phenotypic spectrum including the first description of deafness in MT1 deficiency, and report on mildly affected patients, surviving to adulthood. The dysmorphic features, including abnormal fat distribution and strabismus highly resemble CDG due to phosphomannomutase-2 deficiency (PMM2-CDG), the most common type of CDG. We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic\/thrombotic events.<\/jats:p>","DOI":"10.1542\/peds.2011-2711","type":"journal-article","created":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T04:29:55Z","timestamp":1347337795000},"page":"e1034-e1039","source":"Crossref","is-referenced-by-count":39,"title":["Defining the Phenotype in Congenital Disorder of Glycosylation Due to <i>ALG1<\/i> Mutations"],"prefix":"10.1542","volume":"130","author":[{"given":"Eva","family":"Morava","sequence":"first","affiliation":[{"name":"Department of Pediatrics at the Institute for Genetic and Metabolic Diseases,"},{"name":"Hayward Genetics Center, Tulane University, New Orleans, Lousiana;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Vodopiutz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II, and"},{"name":"Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang M.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Lechner","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chike B.","family":"Item","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Sykut-Cegielska","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, The Children\u2019s Memorial Health Institute, Warsaw, Poland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Adamowicz","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, The Children\u2019s Memorial Health Institute, Warsaw, Poland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Wierzba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University of Gdansk, Poland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zong H.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Bioinformatics Institute, Singapore;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Mihalek","sequence":"additional","affiliation":[{"name":"Bioinformatics Institute, Singapore;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler","sequence":"additional","affiliation":[{"name":"Divisions of Biochemical Diseases and Pediatric Neurology, British Columbia Children\u2019s Hospital, University of British Columbia, Vancouver, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf A.","family":"Bodamer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Division of Clinical and Translational Genetics and Genomics; Miller School of Medicine, University of Miami, Florida; 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