Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report.

ABSTRACT:

Background

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which encodes citrin protein expressed in the liver, have been identified as the genetic cause for NICCD.

Case presentation

Here, we report a 4-month-old female with clinical features including jaundice, hyperbilirubinemia, hyperlactacidemia, and abnormal liver function. The patient was diagnosed with NICCD by differential diagnosis using genetic analysis. Mutations in 60 jaundice-related genes were tested by using amplicon sequencing, which was performed on an Ion S5XL genetic analyzer. A compound heterozygous mutation in the SLC25A13 gene was i

SUBMITTER: Zhang L 

PROVIDER: S-EPMC6790242 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature