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Article

Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate

  • Authors:
    • Haisong Bu
    • Lin Liu
    • Shijun Hu
    • Zhiping Tan
    • Tianli Zhao
  • View Affiliations / Copyright

    Affiliations: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China, Department of Stomatology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China
  • Pages: 3831-3840
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    Published online on: March 15, 2019
       https://doi.org/10.3892/mmr.2019.10043
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Abstract

Congenital heart disease (CHD), and cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Various methods have been used to identify the disease‑associated genes. However, targeted next‑generation sequencing (NGS) is not yet considered an option for routine use. Thus, the present study aimed to assess the safety and feasibility of using targeted NGS in patients with CHD concomitant with CLP. Between November 2015 and May 2017, a total of 17 patients with CHD concomitant with CLP, who were excluded from a diagnosis of trisomy syndrome, were selected at The Second Xiangya Hospital of Central South University (Changsha, China). Genomic DNA was extracted from peripheral blood samples of the patients. The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1‑Quad Beadchip, while information on other gene mutations was obtained from targeted sequencing. The functions of gene mutations were then predicted using the PolyPhen‑2, SIFT and Mutation Taster tools. Finally, Sanger sequencing was used to verify the mutations. The results identified no pathogenic mutations in CNVs analyzed by high‑throughput SNP sequencing. Targeted NGS results demonstrated that 10 patients (58.8%) carried gene mutations, including 4 (23.5%) genetically diagnosed cases and 6 (35.3%) cases with unknown etiology. The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys‑Dietz syndrome caused by TGFBR1 gene mutation, Ritscher‑Schinzel/3C syndrome caused by KIAA0196 gene mutation and CHARGE syndrome caused by CHD7 gene mutation. The remaining 6 cases were not genetically diagnosed, although they carried candidate genes. In conclusion, the present study demonstrated that targeted NGS was an effective and accurate candidate gene detection method in patients with CHD concomitant with CLP.
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Copy and paste a formatted citation
Spandidos Publications style
Bu H, Liu L, Hu S, Tan Z and Zhao T: Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Mol Med Rep 19: 3831-3840, 2019.
APA
Bu, H., Liu, L., Hu, S., Tan, Z., & Zhao, T. (2019). Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular Medicine Reports, 19, 3831-3840. https://doi.org/10.3892/mmr.2019.10043
MLA
Bu, H., Liu, L., Hu, S., Tan, Z., Zhao, T."Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate". Molecular Medicine Reports 19.5 (2019): 3831-3840.
Chicago
Bu, H., Liu, L., Hu, S., Tan, Z., Zhao, T."Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate". Molecular Medicine Reports 19, no. 5 (2019): 3831-3840. https://doi.org/10.3892/mmr.2019.10043
Copy and paste a formatted citation
x
Spandidos Publications style
Bu H, Liu L, Hu S, Tan Z and Zhao T: Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Mol Med Rep 19: 3831-3840, 2019.
APA
Bu, H., Liu, L., Hu, S., Tan, Z., & Zhao, T. (2019). Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular Medicine Reports, 19, 3831-3840. https://doi.org/10.3892/mmr.2019.10043
MLA
Bu, H., Liu, L., Hu, S., Tan, Z., Zhao, T."Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate". Molecular Medicine Reports 19.5 (2019): 3831-3840.
Chicago
Bu, H., Liu, L., Hu, S., Tan, Z., Zhao, T."Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate". Molecular Medicine Reports 19, no. 5 (2019): 3831-3840. https://doi.org/10.3892/mmr.2019.10043
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