Sodhi Deepika Kour, Hagerman Randi
The MIND Institute, University of California Davis Health, Sacramento, CA, USA.
Department of Pediatrics, University of California Davis Health, Sacramento, CA, USA.
Pharmgenomics Pers Med. 2021 Dec 29;14:1689-1699. doi: 10.2147/PGPM.S338846. eCollection 2021.
The fragile X premutation is characterized by 55-200 CGG repeats in the 5' untranslated region of whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.
脆性X前突变的特征是在其5'非翻译区有55 - 200个CGG重复序列,而完全脆性X突变则有超过200个重复序列且完全甲基化,表现为脆性X综合征(FXS)。临床受累的前突变谱包括脆性X相关震颤/共济失调综合征(FXTAS)、脆性X相关原发性卵巢功能不全(FXPOI)以及脆性X相关神经精神障碍(FXAND)。此外,前突变携带者还患有各种其他健康问题,如内分泌异常和自身免疫问题。在本文中,我们讨论了携带者面临的不同健康问题以及包括药物治疗、疗法和生活方式改变等在内的干预措施,这些措施可能改善他们的健康状况。