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4. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

Author

Ochoa Sepúlveda, J.J., Serrano Cárdenas, J., Sobrido Gómez, M.J., Mora, M.D., Moreno-Medinilla, E., Ramos, J., Llorente, M., Teva, M.D., Castaño-de la Mota, C., Martínez-Ruiz, J., González Gutierrez-Solana, L., Martí, M.J., Gómez-Esteban, J.C., Hernandez-Vara, J., García Cazorla, Á., Artuch, R., Adarmes, A., Mir, P., Fernández-Ramos, Joaquín A., De la Torre-Aguilar, María José, Quintáns, Beatriz, Pérez-Navero, Juan Luis, Beyer, Katrin, and López-Laso, Eduardo

Published
2022
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9. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

Author

Fernández-Ramos, Joaquín A., primary, De la Torre-Aguilar, María José, additional, Quintáns, Beatriz, additional, Pérez-Navero, Juan Luis, additional, Beyer, Katrin, additional, López-Laso, Eduardo, additional, Ochoa Sepúlveda, J.J., additional, Serrano Cárdenas, J., additional, Sobrido Gómez, M.J., additional, Mora, M.D., additional, Moreno-Medinilla, E., additional, Ramos, J., additional, Llorente, M., additional, Teva, M.D., additional, Castaño-de la Mota, C., additional, Martínez-Ruiz, J., additional, González Gutierrez-Solana, L., additional, Martí, M.J., additional, Gómez-Esteban, J.C., additional, Hernandez-Vara, J., additional, García Cazorla, Á., additional, Artuch, R., additional, Adarmes, A., additional, and Mir, P., additional

Published
2022
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10. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Author

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, and Pujol A

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Hereditary Central Nervous System Demyelinating Diseases diagnostic imaging, Humans, Infant, Infant, Newborn, Leukocytes, Mononuclear physiology, Male, Neurodevelopmental Disorders diagnostic imaging, Pedigree, Alleles, Genetic Variation genetics, Hereditary Central Nervous System Demyelinating Diseases genetics, Minor Histocompatibility Antigens genetics, Neurodevelopmental Disorders genetics, Phosphotransferases (Alcohol Group Acceptor) genetics
Abstract

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2021
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