| Literature DB >> 30653653 |
Celia Medrano1, Ana Vega1, Rosa Navarrete1, M Jesús Ecay1, Rocío Calvo2, Samuel Ignacio Pascual3, Mónica Ruiz-Pons4, Laura Toledo5, Inmaculada García-Jiménez6, Ignacio Arroyo7, Andrea Campo8, M Luz Couce9, M Rosario Domingo-Jiménez10, M Teresa García-Silva11, Luis González-Gutiérrez-Solana12, Loreto Hierro13, Elena Martín-Hernández11, Mercedes Martínez-Pardo14, Susana Roldán15, Miguel Tomás16, Jose C Cabrera5, Francisco Mártinez-Bugallo17, Lucía Martín-Viota18, Isidro Vitoria-Miñana19, Dirk J Lefeber20, M Luisa Girós21, Mercedes Serrano Gimare22, Magdalena Ugarte1, Belén Pérez1, Celia Pérez-Cerdá1.
Abstract
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non-specific symptoms render the diagnosis of the different CDG very challenging. Phosphomannomutase 2 (PMM2)-CDG is the most common CDG, but advances in genetic analysis have shown others to occur more commonly than previously thought. The present work reports the clinical and mutational spectrum of 25 non-PMM2 CDG patients. The most common clinical symptoms were hypotonia (80%), motor or psychomotor disability (80%) and craniofacial dysmorphism (76%). Based on their serum transferrin isoform profile, 18 were classified as CDG-I and 7 as CDG-II. Pathogenic variations were found in 16 genes (ALG1, ALG6, ATP6V0A2, B4GALT1, CCDC115, COG7, DOLK, DPAGT1, DPM1, GFPT1, MPI, PGM1, RFT1, SLC35A2, SRD5A3, and SSR4). Overall, 27 variants were identified, 12 of which are novel. The results highlight the importance of combining genetic and biochemical analyses for the early diagnosis of this heterogeneous group of disorders.Entities:
Keywords: congenital disorders of glycosylation; next-generation sequencing; non-PMM2-CDG; serum transferrin
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Year: 2019 PMID： 30653653 DOI： 10.1111/cge.13508
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438