Background and objective: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia, prolong jaundice, chronic liver disease and so on. This study aimed to identify four mutations of SLC25A13.
Methods: Four common mutations termed as 851del4, IVS6 + 5G > A, 1638ins23, IVS16ins3kb in the NICCD patients were detected by DNA analysis.
Results: 851del4 was accounting for 90.5% in mutant allele. One hundred and sixty-nine patients have identified mutations, including 93 patients were 851del4 homozygotes, 62 patients were 851del4 heterozygotes, three patients was heterozygotes of single mutation 1638ins23, one patient was heterozygotes of single mutation IVS6+5G > A and two patients was compound heterozygotes of 1638ins23+851del4, two patients were compound heterozygotes (851del4 + IVS6 + 5G > A), six patients were compound heterozygotes (851del4 + IVS16ins3kb). Genotype of NICCD in Vietnam were 851del/851del4, 851del/1638ins23, 851del/IVS6 + 5G > A. 851del/IVS16ins3kb.
Conclusions: 851del4 was the most common mutation type and 851del/851del4 is the major genotype. We recommend that this mutation should be firstly screen for Vietnamese patients suspected NICCD caused by citrin deficiency.
