GH/IGF轴的基因突变。

Sabina Domené, Horacio M Domené
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引用次数: 14

摘要

GH/IGF轴在控制产前和产后生长中起重要作用。至少有48种单基因缺陷影响生长激素和igf的产生、分泌和作用。GH/IGF轴的分子缺陷导致身材矮小,我们将其任意分为4组:1。2.合并垂体激素缺乏症(CPHD) (a.综合征型CPHD和b.非综合征型CPHD);2 .孤立性生长激素缺乏症(IGHD);生长激素不敏感;IGF-I不敏感。约30-40%的生长迟缓、严重IGHD、CPHD、明显GH或IGF-I不敏感、胎龄较小的儿童可获得遗传诊断。下一代测序(NGS)技术的可及性增加,导致先前与身材矮小相关的基因以及全新的基因中出现了大量可能的致病变异。需要功能性的体外实验和体内动物模型来确定这些发现的真正贡献。
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Genetic Mutations in the GH/IGF Axis.

The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.

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来源期刊
Pediatric endocrinology reviews : PER
Pediatric endocrinology reviews : PER Medicine-Endocrinology, Diabetes and Metabolism
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期刊介绍: PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training. PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.
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