Neonatal cholestasis

Gene: UTP4

Comment when marking as ready: Based on literature review

Created: 21 Aug 2018, 8:44 a.m.

OMIM reports that a R565W homozygous substitution was found in all patients from 5 families with North American Indian childhood cirrhosis (NAIC; 604901), Chagnon et al. (2002)(PMID: 12417987). Function evidence from Freed et al. (2012) (PMID:22916032) reported that this variant reduces interaction between cirhin and NOL11. However, Lek et al. (2016)(PMID:22916032) found that the ExAC database contained 222 heterozygous and 4 homozygous Latino individuals carrying the CIRH1A (UPT4) R565W mutation, for a population frequency of 1.92%. The 4 homozygous individuals had no history of liver disease; recontact with 2 of them revealed normal liver function at ages 56 and 53. Lek et al. (2016) classified this variant as benign. Gene2Phenotype lists the association of CIRH1A and NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS as possible. A literature search didn't find any other publications supporting an association of this gene with cholestasis or other neonatal liver disease.

Created: 15 Aug 2018, 1:24 p.m.