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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

First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Haematologica Polonica de Gruyter

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

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Publisher
de Gruyter
Copyright
© 2020 Polish Society of Hematology and Transfusion Medicine, Insitute of Hematology and Transfusion Medicine, published by Sciendo
eISSN
2300-7117
DOI
10.2478/ahp-2020-0038
Publisher site
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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.

Journal

Acta Haematologica Polonica – de Gruyter

Published: Dec 1, 2020

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