Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG) |
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| Authors: | Guoqiang Li Yufei Xu Xuyun Hu Niu Li Ruen Yao Tingting Yu Xiumin Wang Weiwei Guo Jian Wang |
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| Affiliation: | 1. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China;2. Institute of Pediatric Translational Medicine, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China;3. Department of Pediatrics, Shanghai Children''s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China |
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| Abstract: | COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6), which is characterized by growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections and hypohidrosis/hyperthermia. Only eight mutations causing COG6 deficiencies have been described since the first report in 2010. Here, we report the first Chinese patient with COG6-CDG. Utilizing targeted next generation sequencing and Sanger sequencing, we detected compound heterozygous variants (c.1A > G, p.? and c.388C > T, p.(Gln 130*)) of the COG6 gene, both of which were pathogenic. Our study therefore extended the genotype-phenotype relationship of the COG6 gene. |
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| Keywords: | COG6-CDG Compound heterozygous variants Targeted next generation sequencing |
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