Arts syndrome (mental retardation, early-onset hypotonia,ataxia, delayed motor development, hearing impairment,and optic atrophy)
Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
have booth recently been showed to be caused by mutations in PRPS1.
This expands the number of conditions caused by mutations in genes encoding proteins important for purine and pyrimidine metabolism.
The startegy used for both discoveries involved relying on previously published linkage analyses. For Arts syndrome, positional cloning was refined with a second family by exclusion-mapping.
For CMTX5, genes expressed in the cochlea were screened for mutations.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator