North American Indian childhood cirrhosis

North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada.[1] The disease is due to an autosomal recessive abnormality of the CIRH1A gene, which codes for cirhin.[2]

NAIC is a ribosomopathy.[3][4] An R565W mutation of CIRH1A[2][5] leads to partial impairment of cirhin interaction with NOL11.[5]

Initial transient neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis.[1] Eventually, liver failure occurs, and requires liver transplantation.[1]

References

  1. ↑ 1.0 1.1 1.2 Online 'Mendelian Inheritance in Man' (OMIM) 604901
  2. ↑ 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 607456
  3. ↑ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
  4. ↑ Sondalle SB, Baserga SJ (2014). "Human diseases of the SSU processome". Biochim. Biophys. Acta 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMID 24240090.
  5. ↑ 5.0 5.1 Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLoS Genet. 8 (8): e1002892. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
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