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Liu G, Wei X, Chen R, et al. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. Gene. 2013;533(2):547-53doi: 10.1016/j.gene.2013.10.021.
Liu, G., Wei, X., Chen, R., Zhou, H., Li, X., Sun, Y., Xie, S., Zhu, Q., Qu, N., Yang, G., Chu, Y., Wu, H., Lan, Z., Wang, J., Yang, Y., & Yi, X. (2014). A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. Gene, 533(2), 547-53. https://doi.org/10.1016/j.gene.2013.10.021
Liu, Gang, et al. "A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing." Gene vol. 533,2 (2014): 547-53. doi: https://doi.org/10.1016/j.gene.2013.10.021
Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23. PMID: 24161253.
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Gene. 2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Gene

Gang Liu, Xiaoming Wei, Rui Chen, Hanlin Zhou, Xiaoyan Li, Yan Sun, Shuqi Xie, Qian Zhu, Ning Qu, Guanghui Yang, Yuxing Chu, Haitao Wu, Zhangzhang Lan, Jinming Wang, Yi Yang, Xin Yi

Affiliations

  1. School of Bioscience & Bioengineering, South China University of Technology, Guangzhou 510640, China; BGI-Shenzhen, Shenzhen 518083, China.

PMID: 24161253 DOI: 10.1016/j.gene.2013.10.021

Abstract

Type II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency (NICCD, OMIM# 605814). In this study, a 5-month-old female Chinese neonate diagnosed with type II citrullinaemia was examined. The diagnosis was based on biochemical and clinical findings, including organic acid profiling using a gas chromatography mass spectrometry (GC/MS), and the patient's parents were unaffected. Approximately 14 kb of the exon sequences of the SLC25A13 and two relative genes (ASS1 and FAH) from the proband and 100 case-unrelated controls were captured by array-based capture method followed by high-throughput next-generation sequencing. Two single-nucleotide mutations were detected in the proband, including the previous reported c.1177+1G>A mutation and a novel c.754 G>A mutation in the SLC25A13 gene. Sanger sequence results showed that the patient was a compound heterozygote for the two mutations. The novel mutation (c.754 G>A), which is predicted to affect the normal structure and function of citrin, is a candidate pathogenic mutation. Target sequence capture combined with high-throughput next-generation sequencing technologies is proven to be an effective method for molecular genetic testing of type II citrullinaemia.

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Keywords: A; AA; ALP; ALT; ASS; ASS1; AST; BWA; Burrows Wheeler Aligner; C; CTLN; CTLN1; CTLN2; E; FAH; FTTDCD; G; GC/MS; GGT; Glu; HBV; HCV; HIV; K; Lys; NGS; NICCD; Next generation sequencing; Novel mutation; PCR; PLA; PPA; PSTI; SLC25A13; SNP; T; Target sequence capture; Type II citrullinaemia; adenosine; adult-onset type II citrullinaemia; alanine transaminase; alkaline phosphatase; amino acid(s); argininosuccinate synthetase 1; aspartate aminotransferase; base pair(s); bp; citrullinaemia; cytidine; failure to thrive and dyslipidaemia caused by citrin deficiency; gDNA; gamma glutamyltransferase; gas chromatography mass spectrometry; gene encoding argininosuccinate synthase 1; gene encoding citrin; gene encoding fumarylacetoacetate hydrolase; genomic DNA; glutamic acid; guanosine; hepatitis B virus; hepatitis C virus; human immunodeficiency virus; lysine; neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency; next-generation sequencing; nt; nucleotide(s); pancreatic secretory protease inhibitor; phenylacetic acid; phenylpyruvic acid; polymerase chain reaction; single-nucleotide polymorphism; thymidine; type I citrullinaemia

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