“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era

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Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3,...

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Autores principales: Pesaola, Favio, Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana, Vazquez, Juan Carlos G, Fernandez, Elmer, De Paul, Ana Lucia, Guelbert, Norberto, Noher, Inés
Formato: article
Lenguaje:Inglés
Publicado: 2021
Materias:
Neuronal Ceroid Lipofuscinosis
Genomics
CLN1
CLN2
CLN8
Atypical Phenotypes
Acceso en línea:http://hdl.handle.net/11086/18646
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R14111086-18646
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Neuronal Ceroid Lipofuscinosis
Genomics
CLN1
CLN2
CLN8
Atypical Phenotypes
spellingShingle Neuronal Ceroid Lipofuscinosis
Genomics
CLN1
CLN2
CLN8
Atypical Phenotypes
Pesaola, Favio
Guelbert, Guillermo
Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana
Vazquez, Juan Carlos G
Fernandez, Elmer
De Paul, Ana Lucia
Guelbert, Norberto
Noher, Inés
“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
topic_facet Neuronal Ceroid Lipofuscinosis
Genomics
CLN1
CLN2
CLN8
Atypical Phenotypes
description Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3, DNAJC5/CLN4, CLN5, CLN6, MFSD8/CLN7, CLN8, CTSD/CN10, GRN/CLN11, ATP13A2/CLN12, CTSF/CLN13, KCTD7/CLN14, TBCK/CLN15. In the frame of the Cordoba cohort, we studied N=51 cases. The aim of this paper is the observational and retrospective analysis of the “atypical” phenotypes. PCR-Sanger sequencing and/or massive exome sequencing were used as a screening methodology. One CLN1 subject showed an atypical prolonged (P) phenotype with null PPT1 activity and a heterozygous compound genotype: E5 c.451C>T, p.Arg151*/g.6302T>G (I3 c.363-3T>G). Other 11 CLN2 individuals (except one girl) showed TPP1 activity decreased to around 10% of the minimum value of the reference interval in leukocytes and saliva. The DNA variants E7 c.827A>T, p.Asp276Val and I7 c.887-10A>G were the most prevalent. One CLN8 individual showed an atypical congenital phenotype with a heterozygous combination of DNA variants: E2 c.1A>G, p.?/E3 c.792C>G, p.Asn264Lys. Massive sequencing was installed as a screening methodology for the precision diagnosis of atypical CLN1, CLN2, and CLN8 phenotypes. A genetic/phenotypic local registry is under construction.
format article
author Pesaola, Favio
Guelbert, Guillermo
Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana
Vazquez, Juan Carlos G
Fernandez, Elmer
De Paul, Ana Lucia
Guelbert, Norberto
Noher, Inés
author_facet Pesaola, Favio
Guelbert, Guillermo
Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana
Vazquez, Juan Carlos G
Fernandez, Elmer
De Paul, Ana Lucia
Guelbert, Norberto
Noher, Inés
author_sort Pesaola, Favio
title “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
title_short “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
title_full “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
title_fullStr “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
title_full_unstemmed “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
title_sort “atypical” phenotypes of neuronal ceroid lipofuscinosis: the argentine experience in the genomic era
publishDate 2021
url http://hdl.handle.net/11086/18646
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