An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.

• Tác giả: Tiffany Andriantsihoarana, Isabelle Chantret, David Cheillan, Vincent Desportes, Thierry Dupré, Stuart E H Moore, Sandrine Vuillaumier-Barrot
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Orphanet journal of rare diseases , 2025
• Bộ sưu tập: NCBI
• ID: 495479

Tóm tắt

 BACKGROUND: Type I Congenital Disorders of Glycosylation (CDG-I) are inherited diseases presenting deficits in protein N-glycosylation involving either the biosynthesis of the lipid-linked oligosaccharide Glc RESULTS: We describe a patient harbouring hypoglycosylated transferrin, a characteristic of CDG-I. NGS revealed a homozygous RFT1 (c.16G >
  T p.Val6Leu) variant of unknown significance that is predicted to be benign. Metabolic radiolabelling of the patient's fibroblasts did not reveal the accumulation of truncated Man CONCLUSION: This is the first description of a pathogenic intronic ALG12 variant upstream of the first coding exon. The modification of the splicing process between intron 1 and exon 2, the very low transcript level and the absence of other mutations in the patient's ALG12 gene lead us to conclude that this ALG12 variant is a predicted Loss of Function (pLOF) variant.