Document Detail

Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2.
MedLine Citation:
PMID:  22389037     Owner:  NLM     Status:  Publisher    
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.
Fatih Bayrakli; Ali Ihsan Okten; Ugur Kartal; Guner Menekse; Aslan Guzel; Ibrahim Oztoprak; Ergun Pinarbasi; Hamit Zafer Kars
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-3
Journal Detail:
Title:  Acta neurochirurgica     Volume:  -     ISSN:  0942-0940     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0151000     Medline TA:  Acta Neurochir (Wien)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neurosurgery, Cumhuriyet University School of Medicine, Kampus, Merkez, Sivas, Turkey, 58140,
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