title: Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2.
abstract: BACKGROUND
  Arachnoid cysts are congenital fluid-filled compartments within the cerebrospinal fluid cisterns and cerebral fissures. They most commonly occur sporadically, and familial occurrence has rarely been reported. In this study, we showed the first genetic linkage in the literature in a pure intracranial arachnoid cyst family with autosomal recessive trait.
  
  
  METHODS
  We identified an intracranial arachnoid cyst family in southern Turkey whose six of seven offspring had intracranial arachnoid cysts in different localizations, and collected venous blood from seven offspring of the family. Whole-genome linkage analysis was performed in all offspring.
  
  
  RESULTS
  A theorical maximum logarithm of the odds score of 4.6 was identified at chromosome 6q22.31-23.2. This result shows strong genetic linkage to this locus.
  
  
  CONCLUSIONS
  We present the first genetic linkage analysis result in a pure intracranial arachnoid cyst family in literature. Further investigation of this linkage area can reveal a causative gene causing the intracranial arachnoid cyst phenotype and can illuminate the pathogenesis of this disease.
authors.affiliation: Department of Neurosurgery, Cumhuriyet University School of Medicine, Kampus, Merkez, Sivas, Turkey, 58140. fbayrakli@hotmail.com
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrakli
authors.forename: Ali Ihsan
authors.initials: AI
authors.lastname: Okten
authors.forename: Ugur
authors.initials: U
authors.lastname: Kartal
authors.forename: Guner
authors.initials: G
authors.lastname: Menekse
authors.forename: Aslan
authors.initials: A
authors.lastname: Guzel
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Oztoprak
authors.forename: Ergun
authors.initials: E
authors.lastname: Pinarbasi
authors.forename: Hamit Zafer
authors.initials: HZ
authors.lastname: Kars
mesh_terms: D000328:Adult; D016080:Arachnoid Cysts / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003241:Consanguinity; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014421:Turkey