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CEP43 (HGNC:17012) has emerged as a candidate gene associated with primary myelofibrosis (MONDO_0009692) based on limited but convergent genetic evidence. In a case report from Molecular Oncology, a novel FGFR1OP-RET rearrangement was identified in a patient with primary myelofibrosis and secondary acute myeloid leukemia, and CEP43 was listed among the genes of interest (PMID:24315414).
A multi‐patient study applying high resolution mate-pair sequencing in a cohort of 15 primary myelofibrosis patients also implicated CEP43 among a panel of genes exhibiting submicroscopic genomic alterations (PMID:23733509). This study, while addressing genetic heterogeneity, provided further support for CEP43’s potential involvement in the disease pathology.
Genetic evidence for this association remains limited, with the available data comprising one well‐characterized case and findings from a small patient cohort. No detailed segregation analysis across family members was provided, which constrains the depth of the genetic data available for CEP43 in primary myelofibrosis (PMID:24315414, PMID:23733509).
Functional studies directly linking CEP43 to the pathogenesis of primary myelofibrosis are currently lacking. However, indirect experimental evidence from centrosome regulation studies suggests that CEP43 may play a role in cellular processes relevant to oncogenesis, though these assays were not performed in the context of myelofibrosis.
When integrating the genetic data with the available functional insights, the overall narrative supports a tentative role for CEP43 in the molecular landscape of primary myelofibrosis. Additional research is warranted to further clarify this relationship and to elucidate the underlying mechanisms by which CEP43 alterations might contribute to disease pathogenesis.
Key take‑home sentence: Despite limited current evidence, CEP43 represents a promising candidate for further investigation in the diagnostic work‑up and therapeutic targeting of primary myelofibrosis.
Gene–Disease AssociationLimitedAssociation supported by a single case report (PMID:24315414) and a multi‑patient study (PMID:23733509) with limited segregation data. Genetic EvidenceLimitedEvidence is based on few probands and lacks robust family segregational support; CEP43 was identified as one of several candidate genes in genomic screening. Functional EvidenceLimitedThere is an absence of direct functional assays linking CEP43 to primary myelofibrosis. Indirect evidence from centrosomal regulation studies suggests potential, but not definitive, pathogenic relevance. |