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  1. Article ; Online: “Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis

    Favio Pesaola / Guillermo Guelbert / Ana Clara Venier / Inés Adriana Cismondi / Adriana Becerra / Juan Carlos G. Vazquez / Elmer Fernandez / Ana Lucia De Paul / Norberto Guelbert / Inés Noher

    Journal of Inborn Errors of Metabolism and Screening, Vol

    The Argentine Experience in the Genomic Era

    2021  Volume 9

    Abstract: ABSTRACT 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 ... ...

    Abstract ABSTRACT 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.
    Keywords Neuronal CeroidLipofuscinosis ; Genomics ; CLN1 ; CLN2 ; CLN8 ; Atypical Phenotypes ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher SciELO
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

    Cismondi, I Adriana / Kohan, Romina / Ghio, Addy / Ramirez, Ana M Oller / Halac, Inés Noher

    Human genetics

    2008  Volume 124, Issue 3, Page(s) 323–324

    MeSH term(s) Adolescent ; Argentina ; Biopsy ; Codon/genetics ; Codon, Terminator ; Exons ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics ; Mutation ; Neuronal Ceroid-Lipofuscinoses/ethnology ; Neuronal Ceroid-Lipofuscinoses/genetics ; Phenotype
    Chemical Substances CLN6 protein, human ; Codon ; Codon, Terminator ; Membrane Proteins
    Language English
    Publishing date 2008-10
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.

    Cismondi, I Adriana / Kohan, Romina / Ghio, Addy / Ramirez, Ana M Oller / Halac, Inés Noher

    Human genetics

    2008  Volume 124, Issue 3, Page(s) 324

    MeSH term(s) Adolescent ; Amino Acid Substitution ; Argentina ; Biopsy ; Codon/genetics ; Exons ; Female ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics ; Mutation, Missense ; Neuronal Ceroid-Lipofuscinoses/ethnology ; Neuronal Ceroid-Lipofuscinoses/genetics ; Phenotype ; Point Mutation
    Chemical Substances CLN6 protein, human ; Codon ; Membrane Proteins
    Language English
    Publishing date 2008-10
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
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  4. Article ; Online: Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.

    Cismondi, I Adriana / Cannelli, Natalia / Aiello, Chiara / Santorelli, Filippo M / Kohan, Romina / Oller Ramírez, Ana M / Halac, Inés Noher

    Human genetics

    2010  Volume 123, Issue 5, Page(s) 554

    MeSH term(s) Age of Onset ; Frameshift Mutation/genetics ; Gene Deletion ; Genetic Variation/genetics ; Humans ; Infant ; Lysosomal Membrane Proteins ; Membrane Proteins/genetics ; Molecular Sequence Data ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology
    Chemical Substances CLN5 protein, human ; Lysosomal Membrane Proteins ; Membrane Proteins
    Language English
    Publishing date 2010-10-20
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  5. Article ; Online: Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.

    Kohan, Romina / Muller, Vivien J / Fietz, Michael J / Cismondi, Adriana I / Oller Ramírez, Ana M / Halac, Inés Noher

    Human genetics

    2010  Volume 123, Issue 5, Page(s) 553

    MeSH term(s) Age of Onset ; Aminopeptidases/genetics ; Codon, Nonsense/genetics ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/genetics ; Humans ; Infant ; Molecular Sequence Data ; Mutation, Missense/genetics ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology ; Serine Proteases/genetics ; Tripeptidyl-Peptidase 1
    Chemical Substances Codon, Nonsense ; Tripeptidyl-Peptidase 1 ; Serine Proteases (EC 3.4.-) ; Aminopeptidases (EC 3.4.11.-) ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases (EC 3.4.14.-) ; TPP1 protein, human (EC 3.4.14.9)
    Language English
    Publishing date 2010-10-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

    Kohan, Romina / Cannelli, Natalia / Aiello, Chiara / Santorelli, Filippo M / Cismondi, Adriana I / Milà, Montserrat / Oller Ramírez, Ana M / Halac, Inés Noher

    Human genetics

    2010  Volume 123, Issue 5, Page(s) 552

    MeSH term(s) Adolescent ; Age of Onset ; Child ; Female ; Gene Deletion ; Genetic Variation/genetics ; Humans ; Lysosomal Membrane Proteins ; Male ; Membrane Proteins/genetics ; Molecular Sequence Data ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology
    Chemical Substances CLN5 protein, human ; Lysosomal Membrane Proteins ; Membrane Proteins
    Language English
    Publishing date 2010-10-20
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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