Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK.
Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Lancet Diabetes Endocrinol. 2018 Jul;6(7):564-574. doi: 10.1016/S2213-8587(18)30034-2. Epub 2018 Feb 1.
Short stature is a common presentation to paediatric endocrinologists. After exclusion of major endocrine or systemic disease, most children with short stature are diagnosed based on a description of their growth pattern and the height of their parents (eg, familial short stature). Height is a polygenic trait and genome-wide association studies have identified many of the associated genetic loci. Here we review the application of genetic studies, including copy number variant analysis, targeted gene panels, and whole-exome sequencing in children with idiopathic short stature. We estimate 25-40% of children diagnosed with idiopathic short stature could receive a molecular diagnosis using these technologies. A molecular diagnosis for short stature is important for affected individuals and their families and might inform treatment decisions surrounding use of growth hormone or insulin-like growth factor 1 therapy.
身材矮小是儿科内分泌科常见的就诊原因。在排除主要的内分泌或系统性疾病后，大多数身材矮小的儿童根据其生长模式和父母的身高（例如家族性身材矮小）进行诊断。身高是一种多基因特征，全基因组关联研究已经确定了许多相关的遗传位点。在这里，我们回顾了遗传研究在特发性身材矮小儿童中的应用，包括拷贝数变异分析、靶向基因panel 和全外显子测序。我们估计，使用这些技术，25-40%被诊断为特发性身材矮小的儿童可以得到分子诊断。身材矮小的分子诊断对受影响的个体及其家庭很重要，并且可能影响围绕使用生长激素或胰岛素样生长因子 1 治疗的决策。
