ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3

Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood ch aracterized by progressive loss of vision, seizures, and psychomotor d isturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1 . The so-called 56 chromosome haplotype defined by alleles at the D16S 299 and D16S298 loci is shared by 73% of Batten disease chromosomes. E xon amplification of a cosmid containing D76S298 has yielded a candida te gene that is disrupted by a 1 kb genomic deletion in all patients c arrying the 56 chromosome. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate as the CLN3 gene. The disease gene encodes a novel 438 amin o acid protein of unknown function.