Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Patryk Lipiński; Anna Bogdańska; Agnieszka Sobczyńska-Tomaszewska; Anna Tylki-Szymańska

doi:10.18388/abp.2020_5715

Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Patryk Lipiński Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland https://orcid.org/0000-0002-1849-8375
Anna Bogdańska Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland
Agnieszka Sobczyńska-Tomaszewska MedGen Medical Centre, Warsaw, Poland
Anna Tylki-Szymańska Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

DOI: https://doi.org/10.18388/abp.2020_5715

Abstract

Background: Several transferrin gene polymorphisms are known to result in a shifted IEF pattern. The aim of this study was to characterize the transferrin gene polymorphisms observed in patients from one referral center. Materials and methods: Patients with solely increased pentasialo-Tf were selected. The whole exome sequencing was done from probands (patients) and from DNA available from their parents. Results: Two various polymorphisms in the transferrin gene: c.2012G>A, p.Gly671Glu and c.1027C>T, p.Arg343Trp, were found. Conclusions: Two transferrin gene polymorphisms: c.2012G>A, p.(Gly671Glu) and c.1027C>T, p.(Arg343Trp) solely correspond to an elevated pentasialo-Tf.

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Published

2021-09-06

Issue

Vol. 68 No. 4 (2021)

Section

Articles

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