A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7

Mol Genet Metab. 1999 Apr;66(4):337-8. doi: 10.1006/mgme.1999.2804.


To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7.

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Male
  • Microsatellite Repeats
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Pedigree