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JCEM：IHH基因突变导致非特异性骨骼异常的身材矮小且对生长激素治疗有反应

2017-11-16 MedSci MedSci原创

IHH基因突变身材矮小生长激素治疗
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大家都知道遗传评估已经公认为是阐生长障碍病因的重要工具。2017年11月15日在JCEM上发表的一篇文章则研究身材矮小的病因及确定有IHH突变的患者的表型，包括对于生长激素治疗的反应（rhGH）。

大家都知道遗传评估已经公认为是阐生长障碍病因的重要工具。2017年11月15日在JCEM上发表的一篇文章则研究身材矮小的病因及确定有IHH突变的患者的表型，包括对于生长激素治疗的反应（rhGH）。

研究人员通过全基因测序查分析了17个有常染色体显性遗传矮小的家庭，筛选出290例有生长障碍疾病患者有IHH缺损。利用分子分析来评估N末端IHH变种的潜在影响。

结果显示确定了10个致病或可能致病的变种IHH，软骨内成骨的重要调节器。分子分析显示出突变IHH分子有较小的势能。在身材矮小的样本找到的估计为有害的IHH变种的稀有等位基因频率（1.6%）比两个对照队列中要高（0.017%和0.08%，p<0.001）。确定的IHH变异呈显性遗传模式。受影响的个体通常表现出轻微不成比例的身材矮小和第五指中节指骨短缩。但他们都没有A1型短指典型特征，而之前是与IHH突变有关。5例患者为IHH变种的杂合子，他们对rhGH治疗反应良好：平均身高SDS一年变化为0.6。

上述研究表明身材矮小IHH致病变种与非特异性骨骼异常的关系，可作为生长障碍新的和常见原因，对rhGH的初始反应良好。

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    2018-10-17 jinweidong

    #特异性#

    0

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    2018-08-05 smallant2015

    #JCEM#

    0

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    2017-11-18 achengzhao

    #JCE#

    0

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    2017-11-18 aliceclz

    #激素治疗#

    0

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    2017-11-18 ms6747015003810650

    #生长激素治疗#

    0