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首页> 外文期刊>Hormone research >Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.
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Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.

机译：生长激素受体序列的改变在确定特发性矮小儿童身高中不起作用。

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BACKGROUND/AIMS: In children with short stature, in whom growth hormone deficiency has been excluded, the presence of a normal or elevated growth hormone concentration concomitant with low insulin-like growth factor I suggests growth hormone insensitivity (GHI). Previous reports suggest that heterozygous mutations in the growth hormone receptor gene (GHR) may account for about 5% of children with idiopathic short stature (ISS). In the present study we have attempted to determine whether mutations in the GHR explain the short stature and growth retardation in a cohort of children with ISS and characteristics suggesting GHI. METHODS: For the present study 33 children with clinical and biochemical characteristics of GHI were selected from a cohort of 150 children of short stature. Molecular analysis of the GHR was performed using a single-strand conformation polymorphism technique and sequencing. Ten different sequence changes in 19 (58%) out of 33 children were identified, 9 of them novel and 1 that had been described previously. RESULTS: Two changes were found in exons 2 and 6. The known polymorphism of exon 6 (G168) was significantly more common in the control subjects than in our study group (63.5 vs. 30%; p < 0.0001). In the intronic sequences 8 previously undescribed DNA changes were found. The screening of the affected children's family members revealed that both normal and short stature members carried the same variants. The study group did not significantly differ from the controls in retention (GHRfl) or exclusion (GHRd3) of exon 3. CONCLUSION: Our study suggests that sequence changes of the GHR are common in children with ISS. The presence of these sequence changes in the control subjects as well as in normal stature family members indicates that these changes represent a simple polymorphism of the GHR. Such DNA changes are more prevalent than previously recognized, and they do not seem to play a contributory role in the etiology of short stature.
机译：背景/目的：在身高矮小的儿童中，生长激素缺乏症已被排除在外，正常或升高的生长激素浓度与低胰岛素样生长因子I一起存在提示生长激素不敏感（GHI）。先前的报道表明，生长激素受体基因（GHR）中的杂合突变可能占特发性矮小儿童（ISS）儿童的5％。在本研究中，我们试图确定GHR中的突变是否可以解释ISS患儿的短期身材和发育迟缓，并提示GHI。方法：从150名身材矮小的儿童队列中选择33名具有GHI临床和生化特征的儿童。使用单链构象多态性技术和测序对GHR进行分子分析。在33个儿童中，有19个（58％）发生了10种不同的序列变化，其中9种是新颖的，而1种先前已经描述过。结果：在外显子2和6中发现了两个变化。已知的外显子6（G168）多态性在对照组中比在我们的研究组中更为普遍（63.5 vs. 30％; p <0.0001）。在内含子序列中发现了8个先前未描述的DNA变化。对受影响儿童家庭成员的筛查显示，正常身材和矮小身材的成员都携带相同的变异体。研究组与外显子3的保留（GHRf1）或排除（GHRd3）对照没有显着差异。结论：我们的研究表明，ISS儿童中GHR的序列改变是常见的。这些序列改变在对照受试者以及正常身材家族成员中的存在表明这些改变代表了GHR的简单多态性。此类DNA的变化比以前认识到的更为普遍，而且它们似乎在矮小病因中没有起到促进作用。

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