{"id":78089,"date":"2025-03-26T17:31:42","date_gmt":"2025-03-26T17:31:42","guid":{"rendered":"https:\/\/cri1149.fr\/publication\/an-alg12-cdg-patient-with-a-novel-homozygous-intronic-mutation-associated-with-low-alg12-mrna\/"},"modified":"2026-10-21T09:49:51","modified_gmt":"2026-10-21T07:49:51","slug":"an-alg12-cdg-patient-with-a-novel-homozygous-intronic-mutation-associated-with-low-alg12-mrna","status":"publish","type":"publication","link":"https:\/\/cri1149.fr\/en\/publication\/an-alg12-cdg-patient-with-a-novel-homozygous-intronic-mutation-associated-with-low-alg12-mrna\/","title":{"rendered":"An ALG12 CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA levels"},"content":{"rendered":"\n

CDG type I (CDG-I) is a group of around 30 rare inherited metabolic disorders affecting the N-glycosylation of glycoproteins in the endoplasmic reticulum (Fig 1). CDG-I presents a complex and often severe multisystem clinical picture. H\u00f4pital Bichat is a reference center for the diagnosis of CDG-I in France. The biochemical hallmark of CDG-I is the presence of hypoglycosylated serum glycoproteins (including transferrin), and nowadays the molecular origins of the disease are generally identified by whole exome sequencing. <\/p>\n\n

One patient has hypoglycosylated transferrin and carries a homozygous RFT1 variant. Metabolic radiolabeling of patient fibroblasts, followed by characterization of dolichol-bound oligosaccharides during the N-glycosylation process, did not reveal the accumulation of truncated Man5GlcNAc2-PP-dolichol structures expected of an RFT1-CDG but an accumulation of Man7GlcNAc2-PP-dolichol, characteristic of an ALG12-CDG . Reassessment of the NGS data revealed a homozygous variant that modifies the second nucleotide of the first intron of the ALG12 gene. A 4-base insertion between exon 1 and exon 2 was found in the cDNA, suggesting a shift of mRNA splicing in this intron to a putative new GU donor site. This is the first description of an intronic mutation associated with altered ALG12 mRNA splicing and very low ALG12 mRNA levels. <\/p>\n\n

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