BACKGROUND: Single-gene disorders related to ischemic stroke seem to be an 
important cause of stroke in young patients without known risk factors. To 
identify new genes responsible of such diseases, we studied a consanguineous 
Moroccan family with three affected individuals displaying hereditary 
leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis 
pigmentosa that appears to segregate in autosomal recessive pattern.
METHODS: All family members underwent neurological and radiological 
examinations. A genome wide search was conducted in this family using the ABI 
PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate 
genes within the region linked to the disease were screened for mutations by 
direct sequencing.
RESULTS: Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis 
of recombination events and LOD score calculation suggests linkage of the 
responsible gene in a genetic interval of 11 Mb located between D17S789 and 
D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven 
candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and 
GRIN2C, identified three missense mutations in the FDXR gene which were also 
found in a homozygous state in three healthy controls, suggesting that these 
variants are not disease-causing mutations in the family.
CONCLUSION: A novel locus for leucoencephalopathy with ischemic stroke, 
dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 
17q24.2-25.3 in a consanguineous Moroccan family.