A型胰岛素抵抗综合征-新的胰岛素受体基因突变和熟悉的表型变异性

A. Freire, P. Scaglia, M. Gryngarten, Mariana L. Gutiérrez, A. Arcari, Laura Suarez, M. Ballerini, Laura E. Valinotto, M. Natale, Kenny Y Del Toro Camargo, I. Bergadá, R. Rey, M. Ropelato
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引用次数: 1

摘要

A型胰岛素抵抗综合征是由胰岛素受体(INSR)基因或其信号通路的杂合突变引起的。我们报告一个14岁的初潮前女孩,BMI正常,严重多毛,黑棘皮症,阴蒂肥大,声音低沉,多囊卵巢肿大,严重高胰岛素血症和生化高雄激素症。我们在INSR的酪氨酸激酶结构域发现了一个新的杂合错义变体(p.l u1150pro),在参与胰岛素通路的SH2B适配器蛋白1中发现了一个杂合错义变体(p.a ala663val)。有趣的是,患者的母亲和兄弟有相同的INSR突变,尽管表型较轻,这就是为什么他们的IR未被诊断出来的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Type A Insulin Resistance Syndrome- Novel insulin receptor gene mutation and familiar phenotypic variability
Type A Insulin Resistance Syndrome is due to heterozygous mutations in the insulin receptor (INSR) gene or its signaling pathway. We present a premenarcheal 14 year-old girl with normal BMI, severe hirsutism, acanthosis nigricans, clitoral hypertrophy, deep voice, enlarged polycystic ovaries, severe hyperinsulinemia and biochemical hyperandrogenism. We identified a novel heterozygous missense variant in the tyrosine kinase domain of INSR (p.Leu1150Pro) and an heterozygous missense variant in SH2B adapter protein 1 involved in the insulin pathway (p.Ala663Val). Interestingly, the patients’ mother and brother had the same INSR mutation although of a milder phenotype, reason why their IR went undiagnosed.
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