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Vol 51, No 4 (2020)
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Submitted: 2020-04-27
Published online: 2020-12-01
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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 Pepek12, Wioletta Bal3, Monika Radwanska3, Marcin M. Machnicki1, Malgorzata Kurkowiak14, Malgorzata Rydzanicz5, Agnieszka Pollak5, Piotr Stawinski5, Rafal Ploski5, Radoslaw Chaber36, Tomasz Stoklosa17
DOI: 10.2478/ahp-2020-0038
·
Acta Haematol Pol 2020;51(4):220-225.
Affiliations
  1. Department of Immunology, Center of Biostructure Research, Medical University of Warsaw, Warsaw, Poland
  2. Postgraduate School of Molecular Medicine, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warsaw, Poland
  3. Clinic of Pediatric Oncology and Hematology, State Hospital 2 in Rzeszow
  4. International Centre for Cancer Vaccine Science, University of Gdansk, Gdansk, Poland
  5. Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
  6. Department of Paediatrics, Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland
  7. Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland

open access

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

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.

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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

Page views

157

Article views/downloads

311

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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