CLN6 Gene Identified

Ruth Wheeler, Ph.D. and Julie Sharp, Ph.D., both of University College London (UK) have identified the gene responsible for CLN6. CLN6 is also called Variant Late Infantile Batten Disease and Costa Rican Late Infantile Batten Disease.

The gene, located on chromosome 15, is similar to the genes for Juvenile (CLN3), Finnish Late Infantile (CLN5) and EPMR (CLN8) in that they encode a transmembrane protein rather than a lysosmal enzyme such as those found with Infantile and Late Infantile Batten Disease. ClN6/Variant Late Infantile has been identified in Costa Rica, Portugal and some Central European countries.

Strangely, there are three naturally occurring animals with this form of NCL; a mouse model designated as the nclf mouse and the Merino and South Hampshire sheep. Identification of the gene for CLN6/Variant Late Infantile will soon lead to using DNA as a means of diagnosis, as well as having carrier and prenatal testing. The project to identify the CLN6 gene was funded in part by BDSRA.

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