矮身儿童遗传检测的诊断收益率:一个系统性审查
Renata C Scalco1, Jan W Schoones2, Despoina Galetaki3,4
1Genetic Endocrinology Unit (LIM25), Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
European journal of endocrinology
|January 16, 2026
概括
基因检测显著有助于诊断儿童的矮身. 综合性基因组方法和特殊特征,如异形状改善诊断产量,指导遗传评估.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
- 基因组医学是基因组医学.
背景情况:
- 矮身影响着许多儿童,需要准确的诊断.
- 遗传因素在各种形式的矮身中起着至关重要的作用.
- 目前关于儿科矮身基因测试产量的证据需要综合.
研究的目的:
- 综合有关矮身儿童遗传检测产出的证据.
- 确定影响遗传测试结果的因素.
- 为低身高的人进行遗传评估提供共识指导方针.
主要方法:
- 对134项研究进行了系统审查.
- 通过测试方式和队列特征计算的诊断产量.
- 对表型特征和与更高产量相关的基因进行分析.
主要成果:
- 总的诊断收益率从4.7% (候选基因) 到33.3% (外体序列) 之间.
- 外体测序显示,综合征性 (50.8%) 和孤立 (15.1%) 矮身的产量更高.
- 面部形和骨异常与诊断产量增加有关.
结论:
- 基因检测对于诊断儿童的矮身是有价值的.
- 测试方式和表型显著影响诊断产量.
- 通常涉及的基因为增长调节途径提供了洞察力.
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