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  1. Article ; Online: A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.

    Muda, Alice / Malerba, Laura / Giordano, Lucio / Fazzi, Elisa / Accorsi, Patrizia

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 7, Page(s) 1953–1958

    Abstract: PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and ... ...

    Abstract PUS7 gene pathogenic variants cause a deficiency in an RNA-independent pseudouridine synthase, which results in a neurodevelopmental phenotype characterized by various degrees of psychomotor delay, acquired microcephaly, aggressive behavior, and intellectual disability. Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self-injurious behavior, sleep disturbances and motor stereotypies.
    MeSH term(s) Humans ; Male ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/pathology ; Phenotype ; Self-Injurious Behavior/complications ; Self-Injurious Behavior/genetics ; Sleep
    Chemical Substances PUS7 protein, human (EC 5.4.-)
    Language English
    Publishing date 2023-04-17
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63212
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

    Filippi, Corinna / Milito, Giuseppe / Accorsi, Patrizia / Muda, Alice / Fazzi, Elisa Maria / Martelli, Paola / Riva, Antonella / Giordano, Lucio

    Clinical neurology and neurosurgery

    2023  Volume 234, Page(s) 107983

    Abstract: Objective: SCN2A gene pathogenic variants are associated with a wide phenotypic spectrum, encompassing epilepsy, developmental delay, and autism spectrum disorder. Researches conducted in Denmark have revealed a disease frequency of approximately 1/78, ... ...

    Abstract Objective: SCN2A gene pathogenic variants are associated with a wide phenotypic spectrum, encompassing epilepsy, developmental delay, and autism spectrum disorder. Researches conducted in Denmark have revealed a disease frequency of approximately 1/78,608 (0.0012%) live births in this population. We estimated the frequency of SCN2A-related disorder in the birth cohort of Brescia and its province between 2002 and 2021.
    Methods: Frequency was calculated by ratio between patients with SCN2A pathogenic variant and the total number of live births at the Regional Epilepsy Center of Brescia, between 2002 and 2021. The number of births in Brescia and province was obtained from the Italian National Institute of Statistics (ISTAT).
    Results: A frequency of 11/23,2678 births (0.0047%) was found. In comparison with Danish data, we noticed a higher frequency of the pathogenic variant in our population, even considering the same time frame (0.0035% of subjects born between 2006 and 2014).
    Conclusion: The frequency of SCN2A pathogenic variant among live births in Brescia and its Province between 2006 and 2014 was about three times that of Danish population; this difference was about four times if we consider the period from 2002 to 2021. More studies are needed to further delineate the frequency of SCN2A pathogenic variant in Italian population.
    MeSH term(s) Humans ; Autism Spectrum Disorder/genetics ; Phenotype ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Epilepsy/epidemiology ; Epilepsy/genetics
    Chemical Substances NAV1.2 Voltage-Gated Sodium Channel ; SCN2A protein, human
    Language English
    Publishing date 2023-09-20
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2023.107983
    Database MEDical Literature Analysis and Retrieval System OnLINE

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