title: An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco. abouhouche@hotmail.fr
authors.forename: Ahmed
authors.initials: A
authors.lastname: Bouhouche
authors.forename: Ali
authors.initials: A
authors.lastname: Benomar
authors.forename: Leila
authors.initials: L
authors.lastname: Errguig
authors.forename: Lamiae
authors.initials: L
authors.lastname: Lachhab
authors.forename: Naima
authors.initials: N
authors.lastname: Bouslam
authors.forename: Jehanne
authors.initials: J
authors.lastname: Aasfara
authors.forename: Sanaa
authors.initials: S
authors.lastname: Sefiani
authors.forename: Layachi
authors.initials: L
authors.lastname: Chabraoui
authors.forename: Elmostafa
authors.initials: E
authors.lastname: El Fahime
authors.forename: Abdeljalil
authors.initials: A
authors.lastname: El Quessar
authors.forename: Mohamed
authors.initials: M
authors.lastname: Jiddane
authors.forename: Mohamed
authors.initials: M
authors.lastname: Yahyaoui
mesh_terms: D000328:Adult; D001483:Base Sequence; D057215:Body Dysmorphic Disorders / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D009018:Morocco; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA; D020521:Stroke / Q000235:genetics*