Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency

BAI Xin-li; ZHANG Ya-nan; WANG Xiao-kang; ZHANG Hui-feng; LI Ying-chao

doi:10.11852/zgetbjzz2017-25-02-03

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (2) : 117-120. DOI: 10.11852/zgetbjzz2017-25-02-03

Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency

BAI Xin-li¹,ZHANG Ya-nan¹,WANG Xiao-kang¹,ZHANG Hui-feng¹,LI Ying-chao²

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Abstract

Objective To investigate genetic features of SLC25A13 gene with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Methods Genomic DNA was extracted from peripheral blood leukocytes in 42 patients with idiopathic cholestasis.Polymerase chain reaction,direct sequencing and genetic analysis were performed using specific primers from 18 exons of SLC25A13 gene. Results 7 patients were diagnosed with NICCD,of which two patients were homozygous 851del4 mutation:c.851_854delGTAT (p.Met284fs) / c.851_854delGTAT (p.Met284fs).Other five patients were compound heterozygous mutations:c.851_854delGTAT (p.Met284fs) / c.754G>A (p.Glu252Lys);g.IVS11+1G>A /g.IVS16ins3kb;c.851_854delGTAT (p.Met284fs) / g.IVS6+5G>A; c.G1064G>A (p.Arg355Gln) / c.G1157G>T (p.Gly386Val); c.1078C>T (p.Arg360Term) / c.IVS4+6A>G. Conclusion c.851_854delGTAT (p.Met284fs) are detected in 6 out of 14 SLC25A13 gene mutant alleles,with a mutation rate of 42.8% (6/14) in 7 patients with NICCD.It is the major mutation (42.8%) in SLC25A13 gene with NICCD patients.Genetic analysis for SLC25A13 gene are helpful to the diagnoses of NICCD.

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SLC25A13 gene / neonatal intrahepatic cholestasis / citrin deficiency

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BAI Xin-li,ZHANG Ya-nan,WANG Xiao-kang,ZHANG Hui-feng,LI Ying-chao. Genetic analysis on SLC25A13 gene in children with neonatal intrahepatic cholestasis caused by citrin deficiency[J]. Chinese Journal of Child Health Care. 2017, 25(2): 117-120 https://doi.org/10.11852/zgetbjzz2017-25-02-03

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