Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2

Bayrakli F., Okten A. I., Kartal U., Menekse G., Guzel A., Oztoprak İ., ...Daha Fazla

Acta Neurochirurgica, cilt.154, sa.7, ss.1287-1291, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 154 Sayı: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1007/s00701-012-1312-6
  • Dergi Adı: Acta Neurochirurgica
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1287-1291
  • Anahtar Kelimeler: Autosomal recessive trait, Intracranial arachnoid cyst, Logarithm of the odds score, Whole-genome linkage analysis
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Hayır

Özet

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. © Springer-Verlag 2012.