Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.

IF 1.9
Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara
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引用次数: 3

Abstract

Objective: Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).

Methods: This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.

Results: A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.

Conclusions: In our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.

Abstract Image

巴西患者FMR1基因突变与卵巢功能障碍之间的关系
目的:我们的研究旨在鉴定一组诊断为原发性卵巢功能不全(POI)的巴西妇女的FMR1基因突变。方法:本横断面研究纳入了2017年6月至2018年12月在巴西库里提巴大学医院就诊的便利样本中年龄在40岁以下的POI确诊患者。提取基因组DNA并使用FragilEase(tm) PCR试剂盒(PerkinElmer)进行分析,这是一种可用于定量FMR1基因中CGG三核苷酸重复扩增的市购检测试剂盒。结果:共纳入52例患者,平均年龄35.8±3.97岁。50例(96.1%)有18 ~ 43个CGG重复的正常等位基因。最常见的cgg重复序列大小为28和30。2例患者(3.8%)出现FMR1基因突变。第1例有19/97个CGG重复等位基因,被归类为FXS的突变前携带者,其儿子有认知障碍。第二组有21/45个CGG重复的等位基因,属于灰色地带。结论:在我们的研究中,3.8%的POI女性患者有FMR1基因突变。最常见的等位基因大小为28和30个CGG重复。
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