An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

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.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.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.Nuclear single-gene disorders related to ischemic stroke are an important cause of stroke, especially in young patients without known risk factors [1]. These diseases could be associated with different stroke phenotypes including arterial dissection, small vessel, and large vessel which are inherited as dominant, recessive or X linked trait. Up to date, 4 loci have been described for the autosomal dominant form. Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) which is a generalized disease of the small arteries, largely predominating in the brain caused by mutations in NOTCH3 gene [2,3]. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare multisystemic disease presenting with leukoencephalopathy, progressive visual loss and nephropathy due to mutations in the TREX1 gene [4]. Marfan syndrome (MFS) which is a connective tissue