3.7%身材高大且核型正常的女孩中存在短臂同源盒基因重复。

Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.

机构信息

Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

出版信息

Acta Paediatr. 2017 Oct;106(10):1651-1657. doi: 10.1111/apa.13969. Epub 2017 Jul 20.

DOI:10.1111/apa.13969

PMID:28667773

Abstract

AIM

The short stature homeobox-containing gene (SHOX) plays an important role in short stature, but has not been explored in detail in a tall stature population before. This study explored the prevalence of SHOX aberrations in girls diagnosed with idiopathic tall stature with a normal karyotype.

METHODS

We studied SHOX aberrations in 81 girls with a median age of 10.43 (7.17-12.73) years diagnosed with tall stature who were referred to our clinic at Copenhagen University Hospital, Denmark, between 2003 and 2013. SHOX copy variations were analysed by quantitative polymerase chain reaction, and aberrations were confirmed by multiplex ligation probe-dependent amplification.

RESULTS

One extra SHOX copy was found in three (3.7%) of the 81 girls with tall stature, and their heights were 2.87, 3.71 and 3.98 standard deviation scores (SDS) and above the median height SDS of the girls with two SHOX copies. Their sitting height/height ratios (-3.08, -2.00 and -2.18 SDS) were all lower than the population mean. Despite these SHOX duplications, the three girls were clinically and biochemically comparable to the 78 girls with two SHOX copies.

CONCLUSION

This study was the first to demonstrate SHOX duplications in three girls with tall stature and normal karyotypes.

摘要

目的

短指同源盒基因（SHOX）在身材矮小中发挥着重要作用，但在高身材人群中尚未得到详细研究。本研究探讨了 SHOX 异常在诊断为特发性身材高大且核型正常的女孩中的发生率。

方法

我们研究了 2003 年至 2013 年间在丹麦哥本哈根大学医院就诊的 81 名身材高大的女孩中 SHOX 异常，这些女孩的中位年龄为 10.43 岁（7.17-12.73 岁）。通过定量聚合酶链反应分析 SHOX 拷贝数变异，并通过多重连接探针依赖性扩增确认异常。

结果

在 81 名身材高大的女孩中，有 3 名（3.7%）女孩的 SHOX 拷贝数增加，她们的身高分别为 2.87、3.71 和 3.98 个标准差评分（SDS），高于具有两个 SHOX 拷贝的女孩的平均身高 SDS。她们的坐高/身高比（-3.08、-2.00 和-2.18 SDS）均低于人群平均值。尽管存在这些 SHOX 重复，但这 3 名女孩在临床表现和生化方面与 78 名具有两个 SHOX 拷贝的女孩相当。