A PUS7 gene pathogenic variant causing self-injurious behavior,sleep disturbances,and developmental delay: A case report |
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Authors: | Alice Muda Laura Malerba Lucio Giordano Elisa Fazzi Patrizia Accorsi |
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Institution: | 1. Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy;2. Unit of Child Neurology and Psychiatry, ASST-Spedali Civili of Brescia, Brescia, Italy;3. Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
Unit of Child Neurology and Psychiatry, ASST-Spedali Civili of Brescia, Brescia, Italy |
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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. |
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Keywords: | autistic-like behavior behavioral disturbances developmental delay microcephaly PUS7 |
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