A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America

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Autores principales: Pesaola, Favio, Cismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, María Noelia, Alonso, Graciela, Pons, Patricia, Noher de Halac, Rita Inés, Oller Ramírez, Ana María
Formato: conferenceObject
Lenguaje:Inglés
Publicado: 2022
Materias:
Lipofuscinosis ceroideas neuronales
Neuronas
Degeneración nerviosa
Acceso en línea:http://hdl.handle.net/11086/24545
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R141-11086-24545
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Lipofuscinosis ceroideas neuronales
Neuronas
Degeneración nerviosa
spellingShingle Lipofuscinosis ceroideas neuronales
Neuronas
Degeneración nerviosa
Pesaola, Favio
Cismondi, Inés Adriana
Guelbert, Norberto
Kohan, Romina
Carabelos, María Noelia
Alonso, Graciela
Pons, Patricia
Noher de Halac, Rita Inés
Oller Ramírez, Ana María
A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
topic_facet Lipofuscinosis ceroideas neuronales
Neuronas
Degeneración nerviosa
description 2 p.
format conferenceObject
author Pesaola, Favio
Cismondi, Inés Adriana
Guelbert, Norberto
Kohan, Romina
Carabelos, María Noelia
Alonso, Graciela
Pons, Patricia
Noher de Halac, Rita Inés
Oller Ramírez, Ana María
author_facet Pesaola, Favio
Cismondi, Inés Adriana
Guelbert, Norberto
Kohan, Romina
Carabelos, María Noelia
Alonso, Graciela
Pons, Patricia
Noher de Halac, Rita Inés
Oller Ramírez, Ana María
author_sort Pesaola, Favio
title A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
title_short A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
title_full A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
title_fullStr A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
title_full_unstemmed A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America
title_sort novel cln8 mutation underlies a late infantile variant of neuronal ceroid lipofuscinosis in latin america
publishDate 2022
url http://hdl.handle.net/11086/24545
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spelling I10-R141-11086-245452023-08-30T14:08:19Z A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America Pesaola, Favio Cismondi, Inés Adriana Guelbert, Norberto Kohan, Romina Carabelos, María Noelia Alonso, Graciela Pons, Patricia Noher de Halac, Rita Inés Oller Ramírez, Ana María Lipofuscinosis ceroideas neuronales Neuronas Degeneración nerviosa 2 p. Fil: Cismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. FIl: Kohan, Romina. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, María Noelia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Cóngénitas; Argentina. Fil: Pesaola, Favio. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopía Electrónica; Argentina. Fil: Oller Ramírez, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina Fil: Noher de Halac, Rita Inés. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all ages, presents with storage of lipofuscin-like lipopigments in cerebral neurons and peripheral tissues. Mutations in CLN8 gene causing epilepsy progressive with mental retardation (EPMR) of Scandinavia and late infantile variant (vLI) phenotype in other countries had not yet been described in Latin America. The change p.Pro229Ala, found in the DNA of 2 individuals from Argentina and Mexico, was not validated as a mutation. Aim: To analyze and to validate changes in CLN8 gene in individuals suspected of vLI NCL. Participants: Fifteen individuals with normal palmitoyl protein thioesterase 1 (PPT1) and tripeptidyl peptidase 1 (TPP1) enzymes, positive electronic microscopy, and lack of mutations in other NCL genes. Method: Polymerase chain reaction, sequencing, and bioinformatics analyses were performed on the coding region of CLN8 gene, and validation of mutations was carried out on 200 control alleles. Result: The novel mutation c.1A>G, p.Met1Val, was validated for an Argentinean child with clinical suspicion of vLI who presented at the age of 3 years with onset of seizures, psychomotor retardation, myoclonus, cortical and cerebellar atrophy, and electronic microscopy with fingerprint and curvilinear profiles. Ocular disorders have not been studied. She died at 12 years of age. The changes p.Pro229Ala and p.Pro3Pro were validated as polymorphisms of the local population, which have been found, respectively, in 10 of 100 (1 in homozygous state) and 1 of 100 controls. Conclusion: The girl with vLI phenotype is the first confirmed CLN8 (vLI) case in Latin America. In the future, CLN8 should be considered in the search of possible mutations in individuals with vLI in the region. https://journals.sagepub.com/doi/full/10.1177/2326409813511871 Fil: Cismondi, Inés Adriana. Universidad Nacional de Córdoba. Facultad de Odontología; Argentina. FIl: Kohan, Romina. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Carabelos, María Noelia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Cóngénitas; Argentina. Fil: Pesaola, Favio. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Alonso, Graciela. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Pons, Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Microscopía Electrónica; Argentina. Fil: Oller Ramírez, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina Fil: Noher de Halac, Rita Inés. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina Genética y Herencia (Genética Médica va en 3 "Ciencias Médicas y de la Salud”) 2022-05-03T14:02:08Z 2022-05-03T14:02:08Z 2013 conferenceObject 2326-4594 http://hdl.handle.net/11086/24545 eng Attribution-NonCommercial-ShareAlike 4.0 International http://creativecommons.org/licenses/by-nc-sa/4.0/ Electrónico y/o Digital

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