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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
Affiliations- Department of Immunology, Center of Biostructure Research, Medical University of Warsaw, Warsaw, Poland
- Postgraduate School of Molecular Medicine, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warsaw, Poland
- Clinic of Pediatric Oncology and Hematology, State Hospital 2 in Rzeszow
- International Centre for Cancer Vaccine Science, University of Gdansk, Gdansk, Poland
- Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
- Department of Paediatrics, Institute of Medical Sciences, University of Rzeszow, Rzeszow, Poland
- Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland
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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.
Keywords
erythrocytosis; ECYT2; VHL variant; next-generation sequencing
About this articleTitle
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
Issue
Pages
220-225
Published online
2020-12-01
Page views
210
Article views/downloads
565
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