👤 Gülcan Güleç

Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and subtype of CMS. A retrospective and cross-sectional study was performed with 16 patients with a genetically confirmed diagnosis of CMS to share our experience with clinical symptoms, demographic data, genetic variants, and treatments applied. Sixteen patients with a specific CMS genetic diagnosis (three novel mutations) were identified, including CHRNE (n = 7), DOK7 (n = 2), AGRN (n = 2), RAPSN (n = 1), CHRNA1 (n = 1), CHRNB1 (n = 1), CHAT (n = 1), and SCN4A (n = 1). Age at onset of symptoms ranged from the neonatal period to 12 years. Genetic diagnosis was confirmed between the ages of three months and 17 years. A significant delay was determined between the onset of symptoms and genetic diagnosis of the disease. This study highlights the importance of genetic testing in CMS. Due to the rarity of CMS, more cases will be recognized and reported as the use of laboratory and genetic testing accelerates. We hope that our experience will grow and contribute further to the literature as clinical follow-up and treatment increase. Show less

In this study, we aimed to investigate the Neurexin 3 gene (NRXN3) polymorphisms in the rs 221473, rs 221497, rs1004212 and rs11624704 regions in relation to nicotine use disorder (NUD) in the Turkish population. Power analysis indicated that the NUD group and the control group of this study should each comprise 200 participants in the 18-65 year age range. The NUD group consisted of individuals without a psychiatric first axis disorder except for NUD, mental retardation, past head trauma or a neurological disorder, who had smoked minimally10 cigarettes per day for at least 1 year. The control group included individuals without a serious chronic physical illness, a previous psychiatric disorder or mental retardation and who responded "no" to the question "have you ever smoked?" A sociodemographic questionnaire and the Fageström nicotine dependence scale (FNDS) for the NUD group were utilized. Venous blood samples of all participants were taken into tubes containing EDTA (ethylene daimine tetra acetic acid) for DNA extraction. Duplex fluorescence melting curve analysis was used for genotype detection and differentiation. The individuals carrying the AC allele and the AG allele at the rs11624704 and the rs1004212 regions respectively had a high risk of being addicted to cigarettes. This is first study investigating the relationship of the NRXN3 gene and nicotine addiction in the Turkish population. It was observed that the risk of NUD in the Turkish population may be related to the Neurexin gene. Show less