Published in

Elsevier, Acta Haematologica Polonica, 4(51), p. 220-225, 2020

DOI: 10.2478/ahp-2020-0038

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2020 by Monika Pepek, Wioletta Bal, Monika Radwanska, Marcin M. Machnicki, Malgorzata Kurkowiak, Malgorzata Rydzanicz ORCID, Agnieszka Pollak, Piotr Stawinski, Rafal Ploski, Radoslaw Chaber, Tomasz Stoklosa
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

Full text: Unavailable

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

Abstract

AbstractIn 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 JAK2/CALR/MPL genes. Next-generation sequencing was employed for older brother revealing NM_000551.4: c.598C>T, p.Arg200Trp homozygous variant in the VHL gene, the similar variant was detected in the younger sibling. Sequencing analysis confirmed the VHL 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.