| Autor: |
Duan, Ruizhi, Marafi, Dana, Xia, Zhi‐Jie, Ng, Bobby G., Maroofian, Reza, Sumya, Farhana Taher, Saad, Ahmed K., Du, Haowei, Fatih, Jawid M., Hunter, Jill V., Elbendary, Hasnaa M., Baig, Shahid M., Abdullah, Uzma, Ali, Zafar, Efthymiou, Stephanie, Murphy, David, Mitani, Tadahiro, Withers, Marjorie A., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep |
| Zdroj: |
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1195-1205, 11p |
| Abstrakt: |
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a constituent subunit of the COG complex that has not been associated with disease traits in humans. Herein, we report two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families that co‐segregated with COG3–CDG presentations. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. Biochemical analysis of serum transferrin from one family showed the loss of a single sialic acid. Western blotting on patient‐derived fibroblasts revealed reduced COG3 and COG4. Further experiments showed delayed retrograde vesicular recycling in patient cells. This report adds to the knowledge of the COG–CDG network by providing collective evidence for a COG3–CDG rare disease trait and implicating a likely pathology of the disorder as the perturbation of Golgi trafficking. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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