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首页> 外文期刊>American journal of medical genetics, Part A >Short Stature due to 15q26 Microdeletion Involving IGF1R: Report of an Additional Case and Review of the Literature .
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Short Stature due to 15q26 Microdeletion Involving IGF1R: Report of an Additional Case and Review of the Literature .

机译：由于涉及IGF1R的15q26微缺失导致身材矮小：另一例病例报告和文献复习。

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摘要

Terminal microdeletion of the long arm of chromosome 15 is a rare cause of short stature. Since Drayer's original report in 1977 [Drayer et al., 1977] only a few cases have been reported. Most cases have been associated with pre- and postnatal growth restriction, microcephaly, developmental delay, various skeletal abnormalities, and dysmorphic facial features. The gene within the 15q26.3 region responsible for growth restriction is the insulin-like growth factor 1 receptor gene (IGF1R, OMIM 147370), a gene that plays a role in skeletal growth, brain development, and carbohydrate metabolism. Normal intrauterine and postnatal growth is dependent upon appropriate insulin-like growth factor 1 (IGF-I) and IGF1R function [Abuzzahab et al., 2003]. The IGF-I receptor is structurally similar to the insulin receptor and like the insulin receptor involves a tyrosine kinase second messenger system. It recognizes and binds to both insulin-like growth factor types 1 and 2 (IGF-I and IGF-II), although has a 15-20-fold increased affinity for IGF-I. Studies on mice have shown that IGF-I promotes growth during embryo-genesis and in postnatal life [Liu et al., 1993] by stimulating DNA synthesis, cell proliferation and cellular differentiation and by increasing glucose uptake and metabolism in adipose and muscle cells [Sara and Hall, 1990].
机译：第15号染色体长臂的末端微缺失是矮小身材的罕见原因。自1977年Drayer的原始报告以来[Drayer et al。，1977]，仅报告了少数病例。大多数病例与产前和产后生长受限，小头畸形，发育迟缓，各种骨骼异常和面部畸形有关。 15q26.3区域内负责生长限制的基因是胰岛素样生长因子1受体基因（IGF1R，OMIM 147370），该基因在骨骼生长，大脑发育和碳水化合物代谢中起作用。正常的子宫内和产后生长取决于适当的胰岛素样生长因子1（IGF-1）和IGF1R功能[Abuzzahab等，2003]。 IGF-1受体在结构上与胰岛素受体相似，并且像胰岛素受体涉及酪氨酸激酶第二信使系统。尽管它对IGF-I的亲和力提高了15-20倍，但它可以识别并结合1型和2型胰岛素样生长因子（IGF-I和IGF-II）。对小鼠的研究表明，IGF-I可通过刺激DNA合成，细胞增殖和细胞分化以及增加葡萄糖在脂肪和肌肉细胞中的摄取和代谢来促进胚胎发生和出生后的生长[Liu等，1993]。萨拉和霍尔，1990年]。

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