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

Yin,Shaowei; Gong,Liying; Qiu,Hao; Zhao,Yan; Zhang,Yan; Liu,Caixia; Jiang,Hongkun; Mao,Yan; Kong,Ling‑Yin; Liang,Bo; Lv,Yuan

doi:10.3892/etm.2019.7834

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
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Affiliations: Liaoning Centre for Prenatal Diagnosis, Key Laboratory of Maternal‑Fetal Medicine of Liaoning Province, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning 110004, P.R. China, Clinical Laboratory, The People's Hospital of China Medical University, Shenyang, Liaoning 110016, P.R. China, Basecare Medical Device Co., Ltd., Suzhou, Jiangsu 215000, P.R. China, Genetics Unit, Shenyang Maternity and Infant's Hospital, Shenyang, Liaoning 110004, P.R. China, The Outpatient Department of Obstetrics, Shenyang Maternity and Infant's Hospital, Shenyang, Liaoning 110004, P.R. China, Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110016, P.R. China, State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, P.R. China
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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