Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

Magalhães, Ana Paula Pereira Scholz de; Burin, Maira Graeff; Souza, Carolina Fischinger Moura de; Bitencourt, Fernanda Hendges de; Sebastião, Fernanda Medeiros; Silva, Thiago Oliveira; Vairo, Filippo Pinto e; Schwartz, Ida Vanessa Döederlein

doi:10.1016/j.jped.2019.05.008

Cited by 10 publications

(5 citation statements)

References 21 publications

(26 reference statements)

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“…Magalhães et al have recently published results of an observational and retrospective study of individuals investigated by serum Tf IEF in a laboratory in southern Brazil, from 2008 to 2017 [ 19 ]. A total number of 1546 individuals underwent serum Tf IEF, of whom only four individuals were molecularly diagnosed with CDG.…”

Section: Discussionmentioning

confidence: 99%

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Lipiński

Bogdańska

Tylki‐Szymańska

2021

Molecular Genetics and Metabolism Reports

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Introduction The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 – 30th October 2020). Material and methods The diagnosis was based on serum Tf IEF which is performed at The Children's Memorial Health Institute (CMHI) in Warsaw. Based on demographic data, the prevalence of CDG among the Polish population in 2020 as well as the birth prevalence of CDG from 1990 to 2020 were estimated. Results 39 patients (from 35 families) with molecularly confirmed CDG were diagnosed, including 17 (44%) patients (from 16 families) with PMM2-CDG. The c.422G > A, p.Arg141His and c.691G > A, p.Val231Met pathogenic missense variants were the most common identified PMM2 variants. Eleven other patients were diagnosed with CDG based on serum Tf IEF analysis only; the molecular analysis is pending. Ten CDG patients died, including 6 with PMM2-CDG, 1 with PGM1-CDG and 1 with DPAGT1-CDG. The prevalence of CDG in the Polish population was estimated at approximately 1 per million while that of PMM2 at 0.4 per million. The annual incidence of CDG was estimated at 0.013 per 100,000 people in 2020. Conclusions A low frequence of CDG in our study could be underestimated.

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Section: Discussionmentioning

confidence: 99%

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Lipiński

Bogdańska

Tylki‐Szymańska

2021

Molecular Genetics and Metabolism Reports

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“…Abnormal TIEF test have been associated with liver disease or inherited metabolic disorders affecting liver functions, such as hereditary fructose intolerance and galactosemia [12,13]. In a recent study, 1546 individuals underwent TIEF test [14].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

Silver

Bahl

Cordeiro

et al. 2021

Genes

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Introduction: Childhood epilepsy is one of the most common neurological problems. The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). We identified abnormal TIEF test in children with epilepsy in our epilepsy genetics clinic. To determine if an abnormal TIEF test is associated with anti-epileptic medications or abnormal liver functions, we performed a retrospective cohort study. Methods: This study was performed between January 2012 and March 2020. Electronic patient charts were reviewed. Standard non-parametric statistical tests were applied using R statistical software. Fischer’s exact test was used for comparisons. Results: There were 206 patients. The TIEF test was abnormal in 11% (23 out of 206) of the patients. Nine patients were diagnosed with CDG: PMM2-CDG (n = 5), ALG3-CDG (n = 1), ALG11-CDG (n = 2), SLC35A2-CDG (n = 1). We report 51 different genetic diseases in 84 patients. Two groups, (1) abnormal TIEF test; (2) normal TIEF test, showed statistically significant differences for abnormal liver functions and for valproic acid treatment. Conclusion: The TIEF test guided CDG diagnosis in 2.9% of the patients. Due to the high prevalence of CDG (4.4%) in childhood epilepsy, the TIEF test might be included into the diagnostic investigations to allow earlier and cost-effective diagnosis.

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“…This not only includes diagnosis in patients, but also carrier screening in couples with infertility or miscarriage issues. In Latin America, few PMM2-CDG cases have been reported, mainly in Argentina and Brazil [ 16 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

González-Domínguez

Raya-Trigueros

Manrique-Hernández

et al. 2020

Molecular Genetics and Metabolism Reports

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Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in PMM2 c.422G > A (p.R141H) and c.395 T > C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. PMM2 has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort.

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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

Cited by 10 publications

References 21 publications

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

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