Genotype-phenotype correlation in inherited severe insulin resistance
Genotype-phenotype correlation in inherited severe insulin resistance
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DOI：
10.1093/hmg/11.12.1465
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发表时间：
2002-06-01
影响因子：
3.5
通讯作者：
Giannella-Neto, D
中科院分区：
文献类型：
--
作者：
Longo, N;Wany, YH;Giannella-Neto, D
胰岛素受体是一种配体激活的酪氨酸激酶。相应基因的突变会导致罕见的遗传性胰岛素抵抗性疾病--矮妖精症和Rabson-Mendenhall综合征。最严重的综合征，矮妖精，患者有生长受限，改变葡萄糖稳态和早期死亡（通常在1岁之前）。Rabson-Mendenhall综合征的严重程度较低，可存活至5-15岁。这些疾病以常染色体隐性遗传性状传播。在这里，我们报告了六个新的患者和相关的胰岛素受体基因突变与生存。矮妖精病患者的胰岛素受体胞外区突变是纯合子或复合杂合子，他们的细胞胰岛素结合明显受损（
The insulin receptor is a ligand-activated tyrosine kinase. Mutations in the corresponding gene cause the rare inherited insulin-resistant disorders leprechaunism and Rabson-Mendenhall syndrome. Patients with the most severe syndrome, leprechaunism, have growth restriction, altered glucose homeostasis and early death (usually before 1 year of age). Rabson-Mendenhall syndrome is less severe, with survival up to 5-15 years of age. These disorders are transmitted as autosomal recessive traits. Here we report six new patients and correlate mutations in the insulin receptor gene with survival. Patients with leprechaunism were homozygous or compound heterozygous for mutations in the extracellular domain of the insulin receptor and their cells had markedly impaired insulin binding (