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.
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variant causes a novel neurological syndrome, Clinical Genetics, August 2022, Wiley, DOI: 10.1111/cge.14195.
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