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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová, Jana; Nemcovic, Marek; Sesták, Sergej; Bellová, Jana; Pakanová, Zuzana; Siváková, Barbara; Salingová, Anna; Sebová, Claudia; Ostrozlíková, Mária; Lekka, Dimitra-Evanthia; Brucknerová, Jana; Brucknerová, Ingrid; Skoknová, Martina; Mc Cullough, Alexandra; Hrcková, Gabriela; Hlavatá, Anna; Bzdúch, Vladimír; Mucha, Ján; Baráth, Peter.
Afiliação
  • Ziburová J; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Nemcovic M; Department of Clinical Genetics, St. Elizabeth Cancer Institute, Bratislava, Slovakia.
  • Sesták S; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Bellová J; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Pakanová Z; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Siváková B; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Salingová A; Department of Glycobiology, Slovak Academy of Sciences, Institute of Chemistry, Bratislava, Slovakia.
  • Sebová C; Department of Laboratory Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Ostrozlíková M; Department of Laboratory Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Lekka DE; Department of Laboratory Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Brucknerová J; Department of Neonatology and Intensive Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Brucknerová I; Faculty of Medicine, Comenius University, Bratislava, Slovakia.
  • Skoknová M; Department of Neonatology and Intensive Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Mc Cullough A; Faculty of Medicine, Comenius University, Bratislava, Slovakia.
  • Hrcková G; Department of Neonatology and Intensive Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Hlavatá A; Department of Neonatology and Intensive Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Bzdúch V; Department of Neonatology and Intensive Medicine, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Mucha J; Faculty of Medicine, Department of Paediatrics, National Institute of Children's Diseases, Comenius University, Bratislava, Slovakia.
  • Baráth P; Faculty of Medicine, Department of Paediatrics, National Institute of Children's Diseases, Comenius University, Bratislava, Slovakia.
Am J Med Genet A ; 185(11): 3494-3501, 2021 11.
Article em En | MEDLINE | ID: mdl-34467644
Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG 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-glycans by mass spectrometry revealed the accumulation of GlcNAc2Man5-7 and decreased levels of GlcNAc2Man8-9, which indicated impaired ALG12 enzymatic activity. Genetic analysis of the coding regions of the ALG12 gene of the patient revealed a novel homozygous substitution mutation c.1439T>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 ALG12 pathogenic variant responsible for the clinical manifestation of the disorder in the patient described.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polissacarídeos / Defeitos Congênitos da Glicosilação / Predisposição Genética para Doença / Manosiltransferases Limite: Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Am J Med Genet A Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polissacarídeos / Defeitos Congênitos da Glicosilação / Predisposição Genética para Doença / Manosiltransferases Limite: Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Am J Med Genet A Ano de publicação: 2021 Tipo de documento: Article