Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
| Autor: | Sandra Manrique-Hernández, Karol Carrillo-Sánchez, Carolina Molina-Garay, Iván Martínez-Duncker, A. Raya-Trigueros, Roberta Salinas-Marín, Carlos Alberto González-Domínguez, A. González Jaimes, Luis Leonardo Flores-Lagunes, C. Dehesa-Caballero, Marco Jiménez-Olivares, Carmen Alaez-Verson |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Genetics
lcsh:R5-920 Glycosylation Isoelectric focusing Mexican mestizo Case Report Biology Mexican population chemistry.chemical_compound Endocrinology Metabolism chemistry lcsh:Biology (General) Missense mutation CDG Pmm2 cdg PMM2 lcsh:Medicine (General) Molecular Biology Gene lcsh:QH301-705.5 Exome sequencing |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100637-(2020) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| 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: | OpenAIRE |
| Externí odkaz: |
|