Pediatric research · 2018
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Asteggiano Carla Gabriela, Papazoglu Magali, Bistué Millón María Beatriz, Peralta María Fernanda, Azar Nydia Beatriz, Spécola Norma Spécola, Guelbert Norberto, Suldrup Niels Suldrup, Pereyra Marcela, Dodelson de Kremer Raquel
Аннотация
BACKGROUND: 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.
METHODS: 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).
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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).
RESULTS: 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.
CONCLUSIONS: 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.
Предметные рубрики MeSH
AdultArgentinaChildChild, PreschoolCollagen Type VICongenital Disorders of GlycosylationExomeFemaleGalactosemiasGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGlycolipidsGlycoproteinsGlycosylationHomozygoteHumansInfantInfant, NewbornIsoelectric FocusingMaleMass ScreeningNeonatal ScreeningPhenotypeSequence Analysis, DNATransferrin