Expanding the clinical and genetic spectrum of PCYT2-related disorders
| Autor: | Carlos Casasnovas, Agatha Schlüter, Aurora Pujol, Reza Maroofian, Yue Si, Edgard Verdura, Juan José Martínez, Stephanie S Thompson, Laura Planas-Serra, Colleen F. Macmurdo, Valentina Vélez-Santamaría, Josefina Casas |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Government complex hereditary spastic paraplegia (cHSP) Spastic Paraplegia Hereditary European Regional Development Fund Library science RNA Nucleotidyltransferases European Social Fund PCYT2-related disorders 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Political science Mutation Humans Christian ministry Neurology (clinical) 030217 neurology & neurosurgery |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1460-2156 |
| Popis: | Recently, Vaz et al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants in PCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamine biosynthesis. Patient-derived fibroblasts and plasma had significant abnormalities in both neutral etherlipid and etherphospholipid metabolism (Vaz et al., 2019). We wish to broaden the phenotypic and genetic spectrum of PCYT2-related disorders with two additional patients. Clinical features are detailed in Table 1. This study was supported by the Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI19-759], the URDCat program (PERIS SLT002/16/00174), the Hesperia Foundation and the Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206] to A.P., and Instituto de Salud Carlos III [PI14/00581] (Co-funded by European Regional Development Fund. V.V., E.V. and L.P.S. were funded by grants from Instituto de Salud Carlos III, co-funded by European Social Fund. ESF investing in your future (Rio Hortega, CM18/00145; Sara Borrell, CD19/00221; PFIS, FI18/00141) |
| Databáze: | OpenAIRE |
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