Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

Cell. 1995 Sep 22;82(6):949-57. doi: 10.1016/0092-8674(95)90274-0.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Chromosome Deletion
  • Cosmids
  • DNA, Complementary / analysis
  • DNA, Complementary / isolation & purification
  • Female
  • Genetic Testing
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Sequence Analysis, DNA
  • Tumor Cells, Cultured / physiology


  • DNA, Complementary

Associated data

  • GENBANK/U32680