PUS7 Deficiency: Phenotypical Expansion of PUS7-Related Neurodevelopmental Disorders.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi et al.
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Case in brief
The report describes a patient with a homozygous pathogenic variant in PUS7, a gene associated with a neurodevelopmental disorder. The authors also reviewed published cases from 2018 to 2025. Across 17 cases, commonly reported findings included moderate to severe intellectual disability, delayed or absent speech, aggressive behavior, microcephaly, mild facial dysmorphisms, motor delay, and short stature. Sensorineural hearing loss, autistic traits, self-injurious behavior, and motor stereotypies were less common. The abstract does not provide further individual clinical details or describe the patient’s management or outcome.
What made this case unusual
The authors highlight aggression beginning at a very early age as a potentially distinctive feature among otherwise non-specific neurodevelopmental findings.
Diagnostic / clinical pearl
Consider PUS7-related disorder when core neurodevelopmental features occur alongside behavioral signs such as early-onset aggression, self-injury, or motor stereotypies; the authors recommend considering PUS7 variants during whole-exome sequencing in this clinical constellation.