A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
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.
Wheeler
R B
RB
Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom.
Sharp
J D
JD
Mitchell
W A
WA
Bate
S L
SL
Williams
R E
RE
Lake
B D
BD
Gardiner
R M
RM
D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree