Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method

  • Authors:
    • Tianhong Huang
    • Guilin Yang
    • Xiao Dang
    • Feijian Ao
    • Jiankang Li
    • Yizhou He
    • Qiyuan Tang
    • Qing He
  • View Affiliations

  • Published online on: September 7, 2017     https://doi.org/10.3892/mmr.2017.7429
  • Pages: 6876-6881
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Abstract

Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used on the proband and Sanger sequencing was applied to validate the candidate mutation. A de novo heterozygous mutation (c.3254_3255insT p.Leu1085PhefsX24) of the jagged 1 gene was identified as the potential disease‑causing gene mutation. In conclusion, the present study suggested that target region capture sequencing is an efficient, reliable and accurate approach for the clinical diagnosis of AGS. Furthermore, these results expand on the understanding of the pathogenesis of AGS.
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November-2017
Volume 16 Issue 5

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

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Spandidos Publications style
Huang T, Yang G, Dang X, Ao F, Li J, He Y, Tang Q and He Q: Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method. Mol Med Rep 16: 6876-6881, 2017
APA
Huang, T., Yang, G., Dang, X., Ao, F., Li, J., He, Y. ... He, Q. (2017). Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method. Molecular Medicine Reports, 16, 6876-6881. https://doi.org/10.3892/mmr.2017.7429
MLA
Huang, T., Yang, G., Dang, X., Ao, F., Li, J., He, Y., Tang, Q., He, Q."Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method". Molecular Medicine Reports 16.5 (2017): 6876-6881.
Chicago
Huang, T., Yang, G., Dang, X., Ao, F., Li, J., He, Y., Tang, Q., He, Q."Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method". Molecular Medicine Reports 16, no. 5 (2017): 6876-6881. https://doi.org/10.3892/mmr.2017.7429