• August 25th, 2007

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions.

Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg
The American Journal of Human Genetics, volume 81 (2007),   
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

PRPS1 is involved in two more conditions

• August 22nd, 2007

Arts syndrome (mental retardation, early-onset hypotonia,ataxia, delayed motor development, hearing impairment,and optic atrophy)
AND
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.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator