FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.

CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. In this study, FMR1 gene mutation screening was carried out in 50 patients. Among them, 12 (%24) were POF and 19 (%38) were Fragile-X. We also examined the parents of the Fragile-X patients. DNA was extracted from blood with kit procedure. To examine expansion of the fragile-X CGG repeat, TP-PCR assay was performed and all amplicons were evaluated on an ABI3130XL Genetic Analyzer System by Fragman analysis. The data were analyzed by Gene Mapper Program. As a result of this study, the patients were identified with the fragile-X whose FMR1 gene CGG alleles have been observed in normal range. However, in patients who were referred with premature ovarian failure, pre-mutation frequency was observed as 6.6%. Only limited study in Turkish population reported frequency of pre-mutation carrier in POF and Fragile-X. Detection of pre-mutation carrier is important for next generation to have healthy siblings. We emphasize that TP-PCR technique is clear, reliable, sensitive, easy and fast method to detect pre-mutation. However, full mutations have to be examined by the technique of Southern blot in the diagnosis of fragile-X.

A fourth ventricular ganglioneurocytoma representing with cerebellar epilepsy: a case report and review of the literature.

Fourth ventricular low-grade tumoral or dysplastic neuronal lesions have been reported as an epileptic focus for recently described cerebellar epilepsy in the form of repetitive and stereotyped attacks of hemifascial spasm, eye blinking, fascial movements, head deviation and dysautonomic manifestations. The case of a 3-month old infant having fourth ventricular mass with similar symptoms such as paroxysmal facial movements, eye blinking, eyelid contractions and abnormal head posture is reported in this article. After a few days of her admission, her attacks displayed a new form with altered consciousness and left limb jerks which were unresponsive to medical therapy. Following the surgical excision of the lesion 10 months ago, attacks disappeared and she is still seizure free. Histopathological diagnosis was ganglioneurocytoma. The seizures (which may be intractable in cerebellar epilepsy) are thought to have arisen from subcortical structures such as cerebellum, brain stem nuclei or the lesion itself. In the case of intractable episodes, surgical excision may prevent further seizures and help patients have a normal cognitive and motor development.