| Autor: |
C.A. González-Domínguez, A. Raya-Trigueros, S. Manrique-Hernández, A. González Jaimes, R. Salinas-Marín, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, C. Dehesa-Caballero, C. Alaez-Versón, I. Martínez-Duncker |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100637- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2020.100637 |
| Popis: |
Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in PMM2 c.422G > A (p.R141H) and c.395 T > C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. PMM2 has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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