Mutations in the nucleoside transporter gene SLC29A3 cause dysosteosclerosis, a form of osteopetrosis.

Posted by & filed under New IEM, Part 16: LYSOSOMAL DISORDERS, Part 22: CONNECTIVE TISSUE.

SLC29A3 is a lysosomal nucleoside transporter mutations in which cause histiocytosis–lymphadenopathy plus syndrome, a group of conditions with little or no skeletal involvement. We have now identified mutations in this gene in dysosteosclerosis, a form of osteopetrosis characterized by the additional features of platyspondyly, remarkable acquired metaphyseal osteosclerosis and red-violet macular atrophy of skin. We are not certain how mutations in this gene causes the disease, but it seems to be important to osteoclastic lysosomal function. Perhaps the osteoclasts need it to recycle nucleic acids from dead cells, or somehow require it for lysosmal acidification.

Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Aug 29

http://www.ncbi.nlm.nih.gov/pubmed?term=22875837

Posted by Philippe Campeau, MD

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