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

Abstract

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.

Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

“…Parametric linkage analysis, a genetic mapping approach method, of consanguineous pedigrees has proven a powerful means for disease gene discovery in Mendelian disorders and is an important approach for identifying biological pathways relevant in common complex phenotypes. The logarithm of an odds ratio score method is broadly concerned with issues of power and the posterior probability of linkage, ensuring that a reported linkage has a high probability of being a true linkage [6,7]. We applied whole genome linkage analysis to our family where the father and mother were of a consanguineous marriage and had children with meningomyelocele.…”

Delayed presentation of primary parenchymal arachnoid cyst in adult population: a rare location of a common cyst—case report and review of the literature

“…It was extrapolated that it originates from cellular remnants because of embryonic malformation as it was seen in intramedullary arachnoid cysts [11]. Bayrakli et al [12] reported genetic linkage of the intracranial arachnoid cyst and located chromosome 6q22.31-23.2.…”

Prepontine arachnoid cyst presenting with headache and diplopia: A case report study

“…[ 12 ] Several mechanisms have been considered in the formation of arachnoid cysts such as splitting or duplication of the arachnoid membrane,[ 21 ] trauma,[ 8 ] and genetic factors. [ 4 ] Most are developmental anomalies. Acquired form of arachnoid cysts are associated with neoplasms, leptomeningitis, hemorrhage, or surgery.…”