TY - JOUR AB - 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. AD - 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 AU - Yin,Shaowei AU - Gong,Liying AU - Qiu,Hao AU - Zhao,Yan AU - Zhang,Yan AU - Liu,Caixia AU - Jiang,Hongkun AU - Mao,Yan AU - Kong,Ling‑Yin AU - Liang,Bo AU - Lv,Yuan DA - 2019/10/01 DO - 10.3892/etm.2019.7834 EP - 2700 IS - 4 JO - Exp Ther Med KW - congenital disorders of glycosylation conserved oligomeric golgi 5 compound heterozygous mutations severe symptoms PY - 2019 SN - 1792-0981 1792-1015 SP - 2695 ST - Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report T2 - Experimental and Therapeutic Medicine TI - Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report UR - https://doi.org/10.3892/etm.2019.7834 VL - 18 ER -