胰岛素样生长因子Ⅰ受体基因突变与宫内生长受限的研究进展

Development of mutation of insulin-like growth factor Ⅰreceptor and intrauterine growth restriction

目前有关胰岛素生长因子(IGF)家族与胎儿宫内生长受限(IUGR)的研究逐渐增多。在胰岛素样生长因子Ⅰ受体(IGF-ⅠR)基因突变所致IUGR患儿中,除了常见的体格生长发育落后,还常合并头小畸形,以及运动、语言发育落后等不同程度的精神发育迟滞。关于IUGR发生机制有较多研究,但其确切机制目前尚未明确。目前有关IGF-ⅠR不同位点的杂合突变导致IUGR的研究较多,本文就IGF-ⅠR不同位点基因突变导致的IUGR临床表现及其可能机制进行综述。

In recently years,the amount of researches about relationship between insulin-like growth factor（IGF）family and intrauterine growth restriction（IUGR）was increasing.IUGR which caused by insulin-like growth factor-Ⅰ receptor（IGF-Ⅰ R）mutation usually can lead to mental retardation,such as microcephaly abnormal development in motor and language besides physical growth backwardness.The mechanism of IUGR is still not clear.Now many researches focus on different point heterozygous mutation of IGF-ⅠR which leads to IUGR,and this review will make a summary of the different point mutations.