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
- ^ a b c Online Mendelian Inheritance in Man (OMIM): 604901
- ^ a b Online Mendelian Inheritance in Man (OMIM): 607456
- ^ "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. 2013. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
{{cite journal}}: Unknown parameter|authors=ignored (help) - ^ "Human diseases of the SSU processome". Biochim. Biophys. Acta. 1842 (6): 758–64. 2014. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
{{cite journal}}: Unknown parameter|authors=ignored (help) - ^ a b "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLoS Genet. 8 (8): e1002892. 2012. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
{{cite journal}}: Unknown parameter|authors=ignored (help)CS1 maint: unflagged free DOI (link)