An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
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.
Authors
- Stuart Moore (ORCID: https://orcid.org/0000-0002-1020-2242)
- Sandrine Vuillaumier‐Barrot (ORCID: https://orcid.org/0009-0007-4903-5035)
- David Cheillan (ORCID: https://orcid.org/0000-0001-9535-2567)
- Isabelle Chantret (ORCID: https://orcid.org/0000-0002-0896-1274)
- Thierry Dupré (ORCID: https://orcid.org/0000-0003-3081-944X)
- Vincent Desportes
- Tiffany Andriantsihoarana
Institutions
- Inserm (FR)
- Université Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Bichat-Claude-Bernard (FR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1186/s13023-025-03535-4
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fondation Maladies Rares
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale