Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed compound heterozygous variants in PMM2, the encodi...

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Main Authors: C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000756

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