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

Acta Biochim Pol. 2021 Sep 6;68(4):791-793. doi: 10.18388/abp.2020_5715.

Authors

Patryk Lipiński¹, Anna Bogdańska², Agnieszka Sobczyńska-Tomaszewska³, Anna Tylki-Szymańska¹

Affiliations

¹ Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
² Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
³ MedGen Medical Centre, Warsaw, Poland.

PMID: 34486878
DOI: 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.

MeSH terms

Congenital Disorders of Glycosylation / blood
Congenital Disorders of Glycosylation / diagnosis*
Congenital Disorders of Glycosylation / genetics*
Exome Sequencing / methods
Humans
Isoelectric Focusing
Mass Screening / methods
Polymorphism, Genetic*
Transferrin / genetics*

Substances

Transferrin