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
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...
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Published in | Acta haematologica polonica Vol. 51; no. 4; pp. 220 - 225 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
01.12.2020
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Online Access | Get full text |
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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
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. |
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AbstractList | 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
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. |
Author | Chaber, Radoslaw Pepek, Monika Radwanska, Monika Pollak, Agnieszka Stoklosa, Tomasz Stawinski, Piotr Machnicki, Marcin M. Bal, Wioletta Kurkowiak, Malgorzata Rydzanicz, Malgorzata Ploski, Rafal |
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Title | 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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