对家族矮身儿童的分析:谁应该接受基因检测?
Lukas Plachy1, Lenka Petruzelkova1, Petra Dusatkova1
1Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Endocrine connections
|August 10, 2023
概括
单基家族矮身 (FSS) 在接受生长激素 (GH) 治疗的儿童中很常见. 较短的父母身高和较少的骨质延迟年龄 (BA) 预测单基性FSS,通常是由生长板基因变异引起的.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 家庭矮身 (FSS) 通常被认为是多基因的.
- 单基遗传越来越被认为是FSS的重要原因.
- 鉴定单一性FSS的临床预测因素尚未得到充分确立.
研究的目的:
- 为了确定儿童FSS的单一原因.
- 确定表明单一性FSS的临床预测指标.
主要方法:
- 研究了95名患有FSS的儿童,接受生长激素 (GH) 治疗.
- 排除了二次矮身和特定遗传综合征.
- 利用下一代测序进行基因分析,并使用ACMG指南评估变异.
- 采用非参数测试和ROC曲线分析来确定预测因素.
主要成果:
- 在38%的病例中 (36/95名儿童) 确认了单基性FSS.
- 增长板基因变异是最常见的原因 (81%的单基因病例).
- 较低的父母身高和较少的骨质年龄延迟 (BA) 显著预测了单基性FSS.
结论:
- 单基遗传是接受GH治疗的儿童中FSS的常见原因.
- 影响生长板的基因变异是单基因FSS的主要遗传驱动因素.
- 较低的父母身高和BA作为有价值的临床预测指标,用于识别单基性FSS.
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