ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosyldiphosphodolichol beta-mannosyltransferase that p...

Full description

Bibliographic Details
Main Authors: Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
CDG
splicing
metabolic
glycosylation
ALG1
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.744884/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.744884/full

Similar Items