[Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene].
The c.807delT (p.F269Lfs*37) and c.1746+1G>C (p.Gly565_Met582del) compound heterozygous variants of the COG6 gene probably underlay the pathogenesis of this child. Above finding has enriched the mutational spectrum of COG6-CDG and provided a basis for the genetic counseling for this family.
Authors
- Liyu Zhang (ORCID: https://orcid.org/0000-0002-6141-3154)
- Guoxia Wang (ORCID: https://orcid.org/0000-0002-3145-3892)
- Fengyu Che (ORCID: https://orcid.org/0000-0002-5589-0755)
- Lidangzhi Mo (ORCID: https://orcid.org/0000-0001-6563-9962)
- Ying Yang (ORCID: https://orcid.org/0000-0001-8305-1978)
- Benchang Li
- Jiangang Zhao
Institutions
- Xi’an Children’s Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240318-00177
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00