title: Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
abstract: Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1. The so-called 56 chromosome haplotype defined by alleles at the D16S299 and D16S298 loci is shared by 73% of Batten disease chromosomes. Exon amplification of a cosmid containing D16S298 has yielded a candidate gene that is disrupted by a 1 kb genomic deletion in all patients carrying 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 amino acid protein of unknown function.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D003360:Cosmids; D018076:DNA, Complementary / Q000032:analysis / Q000302:isolation & purification; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014407:Tumor Cells, Cultured / Q000502:physiology
chemical_list: D018076:DNA, Complementary