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Ceroid lipofuscinosis, neuronal, 3 (CLN3)

Genes

  • Cln3, battenin (CLN3)

Summary

Ceroid lipofuscinosis, neuronal, 3 (CLN3) was originally described as juvenile-onset form (JNCL), with onset between 4 and 10 years of age. With the identification of molecular defect, the CLN3 refers to CLN caused by mutation in the CLN3 gene, regardless of the age at onset. The classic autosomal recessive form of CLN3 (JNCL) is characterized by visual failure, epileptic seizures, and loss of cognitive and motor functions. The onset of the disease is usually between 4 and 10 years of age, and the lifespan is 18-35 years. Variant forms of CLN3 disease, with slower protracted disease progression, and one case with infantile onset, have also been described. CLN3 is caused by mutations in the Ceroid-lipofuscinosis, neuronal 3 (CLN3) gene, which is located in 16p12.1. CLN3 was the first gene underlying human NCLs to be discovered. The pathogenic mechanism, however, is still unclear. CLN3 encodes a hydrophobic transmembrane protein and has been shown to localize in Golgi apparatus, lysosomes, endosomes, synaptosomes and cell membrane.

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UMLS Concept names

Selected publications

  • Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995 Sep 22;82(6):949-57. (Pubmed)
  • Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. Review (Pubmed)