Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome

  • Authors:
    • Bixia Zheng
    • Jian Pan
    • Yu Jin
    • Chunli Wang
    • Zhifeng Liu
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  • Published online on: July 11, 2016     https://doi.org/10.3892/mmr.2016.5503
  • Pages: 2107-2110
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Abstract

Trichohepatoenteric syndrome (THES) is a rare autosomal, recessively inherited disorder. Mutations in the tetratricopeptide repeat domain 37 (TTC37) gene and the superkiller viralicidic activity 2‑like (SKIV2L) gene have been identified to cause THES. The present study reported a case of a Chinese boy, who presented clinically with intrauterine growth retardation, intractable diarrhea, facial dysmorphism, abnormal scalp hair shafts, immune disorders and liver involvement. Targeted next‑generation sequencing and Sanger DNA sequencing showed compound heterozygous mutations of the SKIV2L gene. The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. Target sequence capture combined with high‑throughput next‑generation sequencing technologies have shown to be effective methods for the molecular genetic assessment of rare inherited disorders.
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September-2016
Volume 14 Issue 3

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Zheng B, Pan J, Jin Y, Wang C and Liu Z: Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. Mol Med Rep 14: 2107-2110, 2016
APA
Zheng, B., Pan, J., Jin, Y., Wang, C., & Liu, Z. (2016). Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. Molecular Medicine Reports, 14, 2107-2110. https://doi.org/10.3892/mmr.2016.5503
MLA
Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z."Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome". Molecular Medicine Reports 14.3 (2016): 2107-2110.
Chicago
Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z."Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome". Molecular Medicine Reports 14, no. 3 (2016): 2107-2110. https://doi.org/10.3892/mmr.2016.5503