What is it about?

Proteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. We delineate an autosomal recessive syndrome of failure to thrive, severe developmental delay and intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micro-penis and undescended testes. Through genetic and fruit fly studies we show that the disease is due to a mutation in PSMC1. encoding a component of proteasome 26S

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Why is it important?

This is the first delineation of a new human disease of severe developmental delay, spastic tetraplegia with deafness and micro-penis, due to a mutation in PSMC1, encoding a component of the proteasome.


Sarit Aharoni of our lab unraveled this new human disease, did the genetic studies to prove association with a variant in PSMC1 and went on to show that silencing of the Drosophila ortholog Rpt2 specifically in the eye caused an apparent phenotype that was highly rescued by the human wild-type PSMC1, yet only partly by the mutant PSMC1. Another human disease discovered in our lab :-)

Ohad Birk
Soroka Medical Center and Ben Gurion University

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This page is a summary of: PSMC1 variant causes a novel neurological syndrome, Clinical Genetics, August 2022, Wiley, DOI: 10.1111/cge.14195.
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