1. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls
- Author
-
C. G. Asteggiano, María Fernanda Peralta, Nydia Beatriz Azar, Niels Suldrup Suldrup, María Beatriz Bistué Millón, Raquel Dodelson de Kremer, Norberto Guelbert, Marcela Pereyra, N. Specola, and Magali Papazoglu
- Subjects
Male ,0301 basic medicine ,Pathology ,Glycosylation ,chemistry.chemical_compound ,Congenital Disorders of Glycosylation ,0302 clinical medicine ,Mass Screening ,Medicine ,Exome ,Child ,Exome sequencing ,chemistry.chemical_classification ,medicine.diagnostic_test ,Homozygote ,Galactosemia ,Transferrin ,Phenotype ,Child, Preschool ,Female ,medicine.symptom ,Adult ,Galactosemias ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Argentina ,Collagen Type VI ,03 medical and health sciences ,Neonatal Screening ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Myopathy ,Glycoproteins ,Genetic testing ,Isoelectric focusing ,business.industry ,Infant, Newborn ,Genetic Variation ,Infant ,Sequence Analysis, DNA ,medicine.disease ,030104 developmental biology ,chemistry ,Pediatrics, Perinatology and Child Health ,Glycolipids ,Isoelectric Focusing ,business ,Glycoprotein ,030217 neurology & neurosurgery - Abstract
Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. We studied 554 patients (2007–2017) with a clinical phenotype compatible with a CDG. Screening was performed by serum transferrin isoelectric focusing. The diagnosis was confirmed by genetic testing (Sanger or exome sequencing). A confirmed abnormal pattern was found in nine patients. Seven patients showed a type 1 pattern: four with PMM2-CDG, two with ALG2-CDG, and one with classical galactosemia. A type 2 pattern was found in two patients: one with a CDG-IIx and one with a transferrin protein variant. Abnormal transferrin pattern were observed in a patient with a myopathy due to a COL6A2 gene variant. CDG screening in Argentina from 2007 to 2017 revealed 4 PMM2-CDG patients, 2 ALG2-CDG patients with a novel homozygous gene variant and 1 CDG-IIx.
- Published
- 2018
- Full Text
- View/download PDF