Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report

  • Authors:
    • Shaowei Yin
    • Liying Gong
    • Hao Qiu
    • Yan Zhao
    • Yan Zhang
    • Caixia Liu
    • Hongkun Jiang
    • Yan Mao
    • Ling‑Yin Kong
    • Bo Liang
    • Yuan Lv
  • View Affiliations

  • Published online on: July 30, 2019     https://doi.org/10.3892/etm.2019.7834
  • Pages: 2695-2700
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Abstract

In the current study, one case of COG5‑CDG involving a Chinese male patient with severe neurological symptoms, who had previously been misdiagnosed with congenital gyrus malformation, is described. A clinical investigation was performed and targeted next‑generation sequencing (NGS) was used to identify COG5 variants in the patient and his family. PCR and Sanger sequencing were performed for the verification of NGS results. The patient showed severe central and peripheral neurological symptoms, while only mild symptoms were reported in a previous reported case, in which different mutations were involved. The reported patient carried the frameshift mutation c.330delT (p.V111Lfs*22), and a missense mutation c.2324 C>T (p.P775L) in the COG5 gene. The c.330delT (p.V111Lfs*22) variant is a novel mutation, while c.2324 C>T (p.P775L) has previously been reported. Inheriting one variant from each of his parents, the current case report furthers the understanding of genotype‑phenotype correlations in COG5‑CDG.

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October 2019
Volume 18 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Copy and paste a formatted citation
APA
Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C. ... Lv, Y. (2019). Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report. Experimental and Therapeutic Medicine, 18, 2695-2700. https://doi.org/10.3892/etm.2019.7834
MLA
Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L., Liang, B., Lv, Y."Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report". Experimental and Therapeutic Medicine 18.4 (2019): 2695-2700.
Chicago
Yin, S., Gong, L., Qiu, H., Zhao, Y., Zhang, Y., Liu, C., Jiang, H., Mao, Y., Kong, L., Liang, B., Lv, Y."Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report". Experimental and Therapeutic Medicine 18, no. 4 (2019): 2695-2700. https://doi.org/10.3892/etm.2019.7834