A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report

Am J Med Genet A. 2023 Jul;191(7):1953-1958. doi: 10.1002/ajmg.a.63212. Epub 2023 Apr 17.

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.

Keywords: PUS7; autistic-like behavior; behavioral disturbances; developmental delay; microcephaly.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Intellectual Disability* / genetics
  • Intellectual Disability* / pathology
  • Male
  • Microcephaly* / diagnosis
  • Microcephaly* / genetics
  • Microcephaly* / pathology
  • Phenotype
  • Self-Injurious Behavior* / complications
  • Self-Injurious Behavior* / genetics
  • Sleep

Substances

  • PUS7 protein, human