Saldarriaga Wilmar, Salcedo-Arellano María J, Rodriguez-Guerrero Tatiana, Ríos Marcela, Fandiño-Losada Andrés, Ramirez-Cheyne Julian, Lein Pamela J, Tassone Flora, Hagerman Randi J
School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Department of Morphology, Universidad del Valle, Cali, Colombia.
School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.
Int J Dev Neurosci. 2019 Feb;72:1-5. doi: 10.1016/j.ijdevneu.2018.10.002. Epub 2018 Oct 29.
Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder. Additionally, close to 50% have psychiatric problems such as anxiety, ADHD and/or depression. The spectrum of fragile X disorders also includes Fragile-X-associated primary ovarian insufficiency (FXPOI) in female carriers and Fragile-X-associated tremor/ataxia syndrome (FXTAS) in older male and female carriers. We evaluated 25 premutation carriers in the rural community of Ricaurte Colombia and documented all behavioral problems, social deficits and clinical signs of FXPOI and FXTAS as well as reviewed the medical and obstetric history. We found an increased frequency and severity of symptoms of fragile X spectrum disorders, which might be related to the vulnerability of FMR1 premutation carriers to higher exposure to neurotoxic pesticides in this rural community.
FMR1基因的前突变携带者（CGG重复序列在55至200之间）通常智力正常，但约20%被诊断患有发育问题或自闭症谱系障碍。此外，近50%有精神问题，如焦虑、注意力缺陷多动障碍和/或抑郁症。脆性X障碍谱还包括女性携带者中的脆性X相关原发性卵巢功能不全（FXPOI）以及老年男性和女性携带者中的脆性X相关震颤/共济失调综合征（FXTAS）。我们评估了哥伦比亚里考特农村社区的25名前突变携带者，记录了所有行为问题、社交缺陷以及FXPOI和FXTAS的临床体征，并回顾了其医疗和产科病史。我们发现脆性X谱系障碍症状的频率和严重程度增加，这可能与该农村社区中FMR1前突变携带者更容易接触到神经毒性农药有关。
