Trio exome highlights PSMC5-associated neurodevelopmental proteasomopathy in a 10-year-old female with ID, behavioral problems, cardiac defect, and hyperacusis and tactile hypersensitivity

KÜRY, S. (2024). Trio exome highlights PSMC5-associated neurodevelopmental proteasomopathy in a 10-year-old female with ID, behavioral problems, cardiac defect, and hyperacusis and tactile hypersensitivity (Version 1) [DataSet]. GestaltMatcher Database.

We present the case of a French 10-year-old girl with a neurodevelopmental disorder characterized by intellectual disability and behavioral disorders. She was born following a normal pregnancy with normal birth measurements. She is the child of an unrelated couple. There is no notable family history. She was monitored for interventricular communication, with spontaneous closure. She presented with psychomotor delay. She walked at the age of 20 months. She presented with a speech delay. She attends a special school with a learning gap of more than four years. She has anxiety, attentional and emotional management difficulties, and auditory and tactile hypersensitivity. She has normal growth. She was treated for a left convergent strabismus and she has hyperopia and astigmatism. Brain MRI was unremarkable. Trio exome sequencing revealed a de novo heterozygous missense variant in PSMC5 consistent with neurodevelopmental proteasomopathy.