Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Autor: 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, Magali Papazoglu
Rok vydání: 2018
Předmět:
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
Zdroj: Pediatric Research. 84:837-841
ISSN: 1530-0447
0031-3998
Popis: 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.
Databáze: OpenAIRE
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