Anomalies of IGF-I receptor : Functional and phenotypical analysis of novel IGF-I receptor gene mutation

我们在一名血清IGF-I水平高、SGA矮小的日本女孩及其母亲身上发现了IGF-IR基因的杂合突变（Asp1105Glu）。转染突变IGF-IR基因的细胞在对IGF-I的反应中没有表现出任何IGF-IR的自磷酸化。突变IGF-IR基因与野生型IGF-IR基因共转染，对野生型IGF-IR的自磷酸化产生显性负作用。

We identified heterozygous mutation(Asp1105Glu) of the IGF-IR gene in a Japanese girl with high serum IGF-I levels and with SGA short stature and her mother. Cells transfected with mutated IGF-IR gene did not show any autophosphorylation of IGF-IR in response to IGF-I. Co-transfection of mutated IGF-IR gene and wild-type IGF-IR gene resulted in dominant negative effects on autophosphorylation of wild-type IGF-IR.