Analysis of SLC25A13 gene mutation and plasma amino acid levels in the neonatal jaundice in Pearl River Delta Region

Abstract

Objective To analyze the mutation rate of SLC25A13 gene in the neonatal jaundice in Pearl River Delta Region, and to explore the relationship between neonatal intrahepatic cholestasis and plasma amino acids levels. Methods The clinical data of 289 children with neonatal jaundice in Guangzhou Women and Children’s Medical Center from September 2016 to March 2017 were analyzed retrospectively. Results 268 cases were analyzed with SLC25A13 gene hot spot mutation and 15 cases (5.6%) were diagnosed as neonatal intrahepatic cholestasis caused by Citrin deficiency (NICCD); the other 23 cases were analyzed by sequencing the whole exons of SLC25A13 gene, and 8 cases (34.8%) were diagnosed as NICCD. The incidence of intrahepatic cholestasis in neonatal jaundice was 7.9%. A total of 5 pathogenic mutations were detected, among which mutation I (851del4) was the most common. The clinical differences in plasma citrulline bile among the NICCD homozygous, heterozygous and wild-type were statistically significant (P=0.001), while the difference determined was statistically significant in the threonine, arginineand methionineonly between the homozygous group and wild type group (threonine: P=0.001; arginine: P=0.005; methionine: P=0.010). Conclusion SLC25A13 gene mutation caused by Citrin protein deficiency is an important cause of persistent jaundice in the Pearl River Delta Region. It is of great significance to diagnose the NICCD in the patients with jaundice of newborn. At the same time, for suspected NICCD patients, more attention should be paid to the clinical analysis. Compared with the detection of threonine arginine, methionine and tyrosine in neonatal plasma, the detection of increased citrulline was more specific for the diagnosis of NICCD. Key words: Neonatal jaundice; NICCD; SLC25A13 gene; Citrin protein