遗传病因是中部早期青春期的相关原因
Ana Pinheiro Machado Canton1,2, Carlos Eduardo Seraphim1,2, Luciana Ribeiro Montenegro1,2
1Developmental Endocrinology Unit, Hormones and Molecular Genetics Laboratory LIM/42, Clinicas Hospital, Discipline of Endocrinology and Metabolism, School of Medicine, University of Sao Paulo, 05403-000 Sao Paulo, Brazil.
基因检测发现了12.6%的中央早熟性青春期 (CPP) 病例的原因,特别是MKRN3和DLK1突变. 家庭病史和神经发育障碍可能预测遗传CPP.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 中央早期青春期 (CPP) 的病因正在随着新的遗传发现而扩大.
- 马科林环指蛋白-3 (MKRN3) 的单一性缺乏症是已确定的原因之一.
研究的目的:
- 评估CPP病因的流行情况.
- 为了确定基因参与CPP的预测因素.
主要方法:
- 对270名CPP患者进行了回顾性队列研究.
- 大脑MRI,DNA测序,基因组微阵列,以及基因研究的甲基化分析.
- 统变逻辑回归用于识别预测因素.
主要成果:
- 遗传病因在12.6%的明显异常性CPP病例中被发现 (22.2%的男孩,12.1%的女孩).
- 常见的遗传缺陷包括MKRN3,DLK1,MECP2功能丧失和14q32.2缺陷.
- 家庭病史 (OR 3.3) 和神经发育障碍 (OR 4.1) 预测了遗传CPP.
结论:
- 遗传病因是两性中CPP的重要原因.
- 家庭病史和神经发育障碍是遗传性CPP的潜在预测因素.
- 提出了包括遗传研究在内的CPP病因学调查的算法.
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