open access

Vol 51, No 4 (2020)
Untitled
Published online: 2020-12-01
Submitted: 2020-04-27
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First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases

Monika Pepek, Wioletta Bal, Monika Radwanska, Marcin M. Machnicki, Malgorzata Kurkowiak, Malgorzata Rydzanicz, Agnieszka Pollak, Piotr Stawinski, Rafal Ploski, Radoslaw Chaber, Tomasz Stoklosa
DOI: 10.2478/ahp-2020-0038
·
Acta Haematol Pol 2020;51(4):220-225.

open access

Vol 51, No 4 (2020)
Untitled
Published online: 2020-12-01
Submitted: 2020-04-27

Abstract

In this article, we report familial cases of type 2 congenital erythrocytosis (ECYT2) in two siblings, a 2-year-old boy and his younger sister. Both patients were diagnosed based on laboratory findings including erythrocytosis, elevated hemoglobin levels, and hematocrit. Acquired erythrocytosis was excluded based on the clinical features and genetic analysis of genes. Next-generation sequencing was employed for older brother revealing NM_000551.4: c.598C>T, p.Arg200Trp homozygous variant in the gene, the similar variant was detected in the younger sibling. Sequencing analysis confirmed the c.598C>T heterozygous variant in both parents. To the best of our knowledge, these are the first confirmed cases of familial erythrocytosis type 2, also known as Chuvash type, in Poland.

Abstract

In this article, we report familial cases of type 2 congenital erythrocytosis (ECYT2) in two siblings, a 2-year-old boy and his younger sister. Both patients were diagnosed based on laboratory findings including erythrocytosis, elevated hemoglobin levels, and hematocrit. Acquired erythrocytosis was excluded based on the clinical features and genetic analysis of genes. Next-generation sequencing was employed for older brother revealing NM_000551.4: c.598C>T, p.Arg200Trp homozygous variant in the gene, the similar variant was detected in the younger sibling. Sequencing analysis confirmed the c.598C>T heterozygous variant in both parents. To the best of our knowledge, these are the first confirmed cases of familial erythrocytosis type 2, also known as Chuvash type, in Poland.

Get Citation

Keywords

erythrocytosis; ECYT2; VHL variant; next-generation sequencing

About this article
Title

First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases

Journal

Acta Haematologica Polonica

Issue

Vol 51, No 4 (2020)

Pages

220-225

Published online

2020-12-01

DOI

10.2478/ahp-2020-0038

Bibliographic record

Acta Haematol Pol 2020;51(4):220-225.

Keywords

erythrocytosis
ECYT2
VHL variant
next-generation sequencing

Authors

Monika Pepek
Wioletta Bal
Monika Radwanska
Marcin M. Machnicki
Malgorzata Kurkowiak
Malgorzata Rydzanicz
Agnieszka Pollak
Piotr Stawinski
Rafal Ploski
Radoslaw Chaber
Tomasz Stoklosa

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