Lisik Małgorzata Zofia
Zakład Genetyki Klinicznej, Katedra i Zakład Biologii Molekularnej i Genetyki, Śląski Uniwersytet Medyczny w Katowicach.
Psychiatr Pol. 2017 Oct 29;51(5):899-907. doi: 10.12740/PP/65778.
Premutation in the FMR1 gene occur in the general population with an estimated prevalence 1 in 130-260 females and 1 in 250-810 males. Carriers of premutation are at risk of development of spectrum of neurological, psychiatric and immunological disorders in adulthood. Fragile X-associated disease caused by dynamic mutation (expansion of CGG repeats) can be divided into three disorders: FXS - Fragile X syndrome, FXPOI - Fragile X-associated primary ovarian insufficiency, FXTAS -Fragile X-associated tremor/ataxia syndrome, which can be present in few generations of one family. Immuno-mediated disorders are more common in premutation carriers as compared to control group, especially hypothyroidism and fibromyalgia. Although FMR1-associated conditions are not curable, timely diagnosis through genetic testing is important as it can lead to implementation of treatment strategies and behavioral interventions considered to improve symptoms. Knowledge of expanded allele status for females helps them to make more informed reproductive decisions.
FMR1基因的前突变出现在普通人群中，估计患病率为每130 - 260名女性中有1例，每250 - 810名男性中有1例。前突变携带者在成年后有发生一系列神经、精神和免疫疾病的风险。由动态突变（CGG重复序列扩增）引起的脆性X相关疾病可分为三种疾病：FXS - 脆性X综合征、FXPOI - 脆性X相关原发性卵巢功能不全、FXTAS - 脆性X相关震颤/共济失调综合征，这些疾病可能出现在一个家族的几代人中。与对照组相比，免疫介导的疾病在前突变携带者中更为常见，尤其是甲状腺功能减退和纤维肌痛。虽然与FMR1相关的疾病无法治愈，但通过基因检测进行及时诊断很重要，因为这可以导致实施被认为能改善症状的治疗策略和行为干预。了解女性的扩增等位基因状态有助于她们做出更明智的生育决定。
