特发性矮小遗传学研究及展望

Genetic studies of idiopathic short stature

矮小是常见的人类性状。较严重的和/或伴有其他表现的矮小通常是某综合征表现的一部分,可能为单基因疾病。比较单纯的矮小可能是多基因复杂病变。选择合适的分子检测或研究方法对于实现准确的诊断、合适的治疗及深入探究影响身体生长发育的基因和信息通路都有重要意义。

Short stature is a common feature.Severe short stature,especially when accompanied by other physical or developmental defects often is part of syndromic manifestations and caused by a single locus.On the other hand,less severe short stature is often a complex phenotype that is affected by both environment and genetics,with the latter contributed by thousands of genetic loci.Different means should be adopted to reach molecular diagnosis for the disease and to understand the genes and pathways that are involved in height.