This condition is inherited in an 392x392px<unk>  is caused by a mutation in the HNRNPK gene, located on chromosome 9 at position q21.32. HNRNPK codes for heterogeneous nuclear ribonucleoprotein K. Ribonucleoproteins are proteins that form complexes with RNA, and they are involved in the transcription of DNA into RNA in the nucleus. They usually bind with precursor messenger RNA (pre-mRNA), which is messenger RNA that has not yet had its introns removed during splicing to be ready for translation. A mutation in one of the two copies of HNRNPK results in defects in DNA transcription, and therefore some developmental processes are disrupted or not completed. Mutations in HNRNPK that have been reported include nonsense mutations, in which the protein is truncated and usually non-functional as a result, frameshift mutations, splice-site mutations and microdeletions encompassing the gene. Rarely, missense mutations, in which one amino acid in the protein is replaced by another, have also been reported. Deletions in the region encompassing HNRNPK have been found in the cells of acute myeloid leukemia in approximately 2% of cases. Acute myeloid leukemia cells are immature white blood cells (myeloblasts) that remain in the stem-cell stage, dividing continually. Additionally, a 2015 study found that a majority of mice who had one of their HNRNPK genes artificially knocked out developed myeloid cancers, with a third developing lymphoid cancers and 4% developing hepatocellular carcinomas. The mice were also smaller, had less developed organs and had higher postnatal mortality (30%). The median lifespan of the mice that survived was less than 50% that of wild-type mice. However, blood cancers had not yet been detected in any of the<unk>  patients . Mutations in both copies of HNRNPK are embryonic lethal in mice. Mice with both copies of the gene knocked out die before the 14th day of embryonic development.
Okamoto syndrome
Yushō disease
Sanjad-Sakati syndrome
Satoyoshi syndrome
Mungan syndrome
Pashayan syndrome
Nakajo syndrome
Abruzzo–Erickson syndrome