A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.
Am J Med Genet A
; 191(7): 1953-1958, 2023 07.
Article
em En
| MEDLINE
| ID: mdl-37067188
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Comportamento Autodestrutivo
/
Deficiência Intelectual
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Microcefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália