Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Journal of inherited metabolic disease - 1 Nov 2023
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, Calame Daniel G, Pehlivan Davut, Gibbs Richard A, Posey Jennifer E, Houlden Henry, Lupashin Vladimir V, Zaki Maha S, Freeze Hudson H, Lupski James R
Abstract excerpt
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...
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