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

被引：15

作者：

Gabriela Asteggiano, Carla ^{[1
]}

Papazoglu, Magali ^{[1
]}

Bistue Millon, Maria Beatriz ^{[1
]}

Fernanda Peralta, Maria ^{[1
]}

Beatriz Azar, Nydia ^{[1
]}

Specola Specola, Norma ^{[2
]}

Guelbert, Norberto ^{[3
]}

Suldrup Suldrup, Niels ^{[4
]}

Pereyra, Marcela ^{[5
]}

Dodelson de Kremer, Raquel ^{[1
]}

机构：

[1] Univ Nacl Cordoba, Fac Ciencias Med, Hosp Ninos Sma Trinidad,CONICET, Ctr Estudio Metabolopatias Congenitas CEMECO,UCC, Ferroviarios 1250, Cordoba, Argentina

[2] Hosp Ninos La Plata, Unidad Metab, Buenos Aires, DF, Argentina

[3] Hosp Ninos Sma Trinidad, Serv Enfermedades Metabol, Ferroviarios 1250, Cordoba, Argentina

[4] IACA Labs, Dept Metabolopatias, Buenos Aires, DF, Argentina

[5] Hosp Pediat Humberto Notti, Serv Crecimiento & Desarrollo, Mendoza, Argentina

来源：

PEDIATRIC RESEARCH | 2018年 / 84卷 / 06期

关键词：

HUMAN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE; MISSENSE MUTATIONS; TRANSFERRIN; CDG; DIAGNOSTICS; PMM2; GENE;

D O I：

10.1038/s41390-018-0206-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：837 / 841

页数：5

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