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Article

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.

Annals of hematology - 1 Jul 2012

Stockklausner Clemens, Echner Nicole, Klotter Anne-Christine, Hegenbart Ute, Dreger Peter, Kulozik Andreas E

Abstract excerpt

Hereditary thrombocythemia (HT) has been described as a rare benign disorder caused by mutations in the thrombopoietin (THPO) or the c-Mpl receptor genes. Here we report two families with HT resulting from a THPO c.13+1 G>C mutation in the splice donor of intron 3. In one family there were coexisting distal limb defects, whereas in the other one member developed early-onset multiple myeloma. These observations,...

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Source

Identifiers

PMID: 22453305
DOI: 10.1007/s00277-012-1453-y

Genes

THPO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.PMID 22453305Read ↗

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationSemantic proximity Read ↗

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.Semantic proximity Read ↗

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.Semantic proximity Read ↗

Relative impact of THPO mutation causing hereditary thrombocythemia.Semantic proximity Read ↗

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.Semantic proximity Read ↗

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.Semantic proximity Read ↗

A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.Semantic proximity Read ↗

Human thrombopoietin: gene structure, cDNA sequence, expression, and chromosomal localization.Semantic proximity Read ↗

Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia.Semantic proximity Read ↗

Familial Essential Thrombocythemia Associated With One-Base Deletion in the 5′-Untranslated Region of theThrombopoietin GeneSemantic proximity Read ↗

Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietinSemantic proximity Read ↗

The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia.Semantic proximity Read ↗

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