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

被引：0

作者：

Lipinski, Patryk ^{[1
]}

Bogdanska, Anna ^{[2
]}

Sobczynska-Tomaszewska, Agnieszka ^{[3
]}

Tylki-Szymanska, Anna ^{[1
]}

机构：

[1] Childrens Mem Hlth Inst, Dept Pediat Nutr & Metab Dis, Warsaw, Poland

[2] Childrens Mem Hlth Inst, Dept Bio Chem Radioimmunol & Expt Med, Warsaw, Poland

[3] MedGen Med Ctr, Warsaw, Poland

来源：

ACTA BIOCHIMICA POLONICA | 2021年 / 68卷 / 04期

关键词：

transferrin; congenital disorders of glycosylation; polymorphism; isoelectric focusing; whole-exome sequencing;

D O I：

10.18388/abp.2020_5715

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：791 / 793

页数：3

共 16 条

[1]

Adamowicz M, 2007, J Inherit Metab Dis, V30, P407, DOI 10.1007/s10545-007-0569-z

[2]

Adamowicz M, 1996, EUR J PEDIATR, V155, P347

[3] Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up [J].

Bogdanska, Anna ;

Lipinski, Patryk ;

Szymanska-Rozek, Paulina ;

Jezela-Stanek, Aleksandra ;

Rokicki, Dariusz ;

Socha, Piotr ;

Tylki-Szymanska, Anna .

ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)

[4] A novel C2 transferrin variant interfering with the analysis of carbohydrate-deficient transferrin [J].

de Wolf, Holger K. ;

Huijben, Karin ;

van Wijnen, Merel ;

de Metz, Menno ;

Wielders, Jos P. M. .

CLINICA CHIMICA ACTA, 2011, 412 (17-18) :1683-1685

[5] Recognizable phenotypes in CDG [J].

Ferreira, Carlos R. ;

Altassan, Ruqaia ;

Marques-Da-Silva, Dorinda ;

Francisco, Rita ;

Jaeken, Jaak ;

Morava, Eva .

JOURNAL OF INHERITED METABOLIC DISEASE, 2018, 41 (03) :541-553

[6] The challenge of CDG diagnosis [J].

Francisco, R. ;

Marques-da-Silva, D. ;

Brasil, S. ;

Pascoal, C. ;

dos Reis Ferreira, V ;

Morava, E. ;

Jaeken, J. .

MOLECULAR GENETICS AND METABOLISM, 2019, 126 (01) :1-5

[7] Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I [J].

Guillard, Mailys ;

Wada, Yoshinao ;

Hansikova, Hana ;

Yuasa, Isao ;

Vesela, Katerina ;

Ondruskova, Nina ;

Kadoya, Machiko ;

Janssen, Alice ;

Van den Heuvel, Lambertus P. W. J. ;

Morava, Eva ;

Zeman, Jiri ;

Wevers, Ron A. ;

Lefeber, Dirk J. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (04) :901-906

[8]

Jaeken J, 2017, J INHERIT METAB DIS, V40, P569, DOI 10.1007/s10545-017-0050-6

[9] Genome-wide association study identifies two loci strongly affecting transferrin glycosylation [J].

Kutalik, Zoltan ;

Benyamin, Beben ;

Bergmann, Sven ;

Mooser, Vincent ;

Waeber, Gerard ;

Montgomery, Grant W. ;

Martin, Nicholas G. ;

Madden, Pamela A. F. ;

Heath, Andrew C. ;

Beckmann, Jacques S. ;

Vollenweider, Peter ;

Marques-Vidal, Pedro ;

Whitfield, John B. .

HUMAN MOLECULAR GENETICS, 2011, 20 (18) :3710-3717

[10] How to find and diagnose a CDG due to defective N-glycosylation [J].

Lefeber, Dirk J. ;

Morava, Eva ;

Jaeken, Jaak .

JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (04) :849-852

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