Human Molecular Genetics, Vol 6, 591-595, Copyright © 1997 by Oxford University Press
JD Sharp, RB Wheeler, BD Lake, M Savukoski, IE Jarvela, L Peltonen, RM Gardiner and RE Williams
The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of
autosomal recessive neurodegenerative disorders characterised by
progressive visual failure, neurodegeneration, epilepsy and the
accumulation of an autofluorescent lipopigment in neurones and other cells.
Three main subtypes have been identified according to age of onset,
clinical features and ultrastructural morphology. These are infantile NCL
(INCL; CLN1), classical late infantile NCL (LINCL; CLN2) and juvenile NCL
(JNCL; CLN3). Several atypical forms of late infantile NCL (LINCL) have
also been described including a Finnish variant LINCL (CLN5). The CLN2 gene
has been excluded from the CLN1, CLN3 and CLN5 loci. A genome search was
initiated using a homozygosity mapping strategy in five classical LINCL and
two variant LINCL consanguineous families. A common region of homozygosity
was identified on chromosome 11p15 in two of the classical families.
Analysis of a further 33 classical LINCL families supported linkage in this
region (Zmax = 3.07 at theta = 0.06 at D11S1338). A common region of
homozygosity was also observed on chromosome 15q21-23 in the two variant
LINCL families. Extension of the analysis to include a further seven
families of identical ultrastructural phenotype established linkage to this
region (Zmax = 6.00 at theta = 0.00 at D15S1020).
ARTICLES
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
Department of Paediatrics, University College London Medical School, The Rayne Institute, UK.
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