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矮身患者的新型致病性NPR2变异以及对rhGH的治疗反应

Hong Chen^1,2, Suping Zhang¹, Yunteng Sun¹

¹Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.

Orphanet journal of rare diseases

|July 27, 2023

概括

这项研究发现了NPR2基因中的新型变异,导致了矮身. 复合人体生长激素 (rhGH) 治疗显示出积极的结果,改善治疗患者的身高.

科学领域:

遗传学遗传学是一个
内分泌学在内分泌学.
骨发育不良症骨发育不良症

背景情况:

在NPR2基因中异构性功能丧失变体是异常性矮身的重要原因.
这些变异导致非特异性骨异常,占矮身病例的2-6%.

研究的目的:

在中华汉族矮身患者中识别NPR2基因的致病变体.
评估这些患者对复合人体生长激素 (rhGH) 的治疗反应.

主要方法:

在三个身高矮的患者身上进行了外体序列测序.
在体外功能实验,同质模型和分子对接被用来评估变异性病原性.
患者接受了两年的rhGH治疗.

主要成果:

确定了两个新的异质合体NPR2变体,即c.1579C>T (p.Leu527Phe) 和c.2842dupC (p.His948Profs*5).
第三个患者有一种变异导致17号外显子删除和过早停止密码子 (p.His840Gln*).
功能性研究显示,变体p.His948Profs*5和p.His840Gln*未能产生cGMP,而p.Leu527Phe显示ATP响应性降低. 经过2年的rhGH治疗,患者的身高增加了1.59个SDS.

结论:

确定了两个与矮身相关的新型NPR2变异,扩大了已知的基因型谱.
rhGH疗法在患有这些NPR2变异的患者的身高改善方面表现出有效性.

关键词:

功能丧失的变种.在NPR2变种中,NPR2变种存在.矮身的身材低矮的人.通过 rhGH 治疗.

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