Open Access

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance

  • Authors:
    • Han-Shi Zeng
    • Shu-Tao Zhao
    • Mei Deng
    • Zhan-Hui Zhang
    • Xiang-Ran Cai
    • Feng-Ping Chen
    • Yuan-Zong Song
  • View Affiliations

  • Published online on: September 10, 2014     https://doi.org/10.3892/ijmm.2014.1929
  • Pages: 1241-1248
  • Copyright: © Zeng et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD phenotype in pediatrics; however, knowledge on its genotypic and phenotypic characteristics remains limited. The present study aimed to explore novel molecular and clinical characteristics of CD. An infant suspected to have NICCD as well as her parents were enrolled as the research subjects. SLC25A13 mutations were investigated using various methods, including cDNA cloning and sequencing. The pathogenicity of a novel mutation was analyzed bioinformatically and functionally with a yeast model. Both the infant and her father were heterozygous for c.2T>C and c.790G>A, while the mother was only a c.2T>C carrier. The novel c.790G>A mutation proved bioinformatically and functionally pathogenic. The infant had esophageal atresia and an accessory hepatic duct, along with bile plug formation confirmed by laparoscopic surgery. However, the father seemed to be healthy thus far. The findings of the present study enrich the genotypic and phenotypic characteristics of CD patients, and provided clinical and molecular evidence suggesting the possible non-penetrance of SLC25A13 mutations and the likely involvement of this gene in primitive foregut development during early embryonic life.
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November-2014
Volume 34 Issue 5

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Zeng H, Zhao S, Deng M, Zhang Z, Cai X, Chen F and Song Y: Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. Int J Mol Med 34: 1241-1248, 2014
APA
Zeng, H., Zhao, S., Deng, M., Zhang, Z., Cai, X., Chen, F., & Song, Y. (2014). Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. International Journal of Molecular Medicine, 34, 1241-1248. https://doi.org/10.3892/ijmm.2014.1929
MLA
Zeng, H., Zhao, S., Deng, M., Zhang, Z., Cai, X., Chen, F., Song, Y."Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance". International Journal of Molecular Medicine 34.5 (2014): 1241-1248.
Chicago
Zeng, H., Zhao, S., Deng, M., Zhang, Z., Cai, X., Chen, F., Song, Y."Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance". International Journal of Molecular Medicine 34, no. 5 (2014): 1241-1248. https://doi.org/10.3892/ijmm.2014.1929