SOX10基因突变致合并耳聋的Kallmann综合征的研究进展

发布时间：2018-04-24 18:10

本文选题：SOX + 基因突变　；参考：《中华男科学杂志》2017年09期

【摘要】：SOX10是神经嵴发育中的关键转录因子,在维持祖细胞多能性、细胞系谱专向分化和神经嵴细胞的发育中发挥着重要作用。研究指出,SOX10基因突变使神经嵴细胞发育不良而导致相应细胞、组织发生病变,包括内分泌系统、周围神经系统、循环系统和骨骼肌系统,所导致的疾病统称为神经嵴病。同时,SOX10基因突变会导致合并耳聋的Kallmann综合征(KS),KS是一种先天性性腺功能低下和嗅觉减退或缺失联合的遗传病,是特发性低促性腺激素性性腺功能减退症(IHH)中常见的类型。因先天性下丘脑促性腺激素释放激素(GnRH)神经元的不完全迁移导致,具有临床和遗传异质性。本文就SOX10基因及其在合并耳聋的KS发病中作用的研究进展展开综述。
[Abstract]:SOX10 is a key transcription factor in the development of neural crest. It plays an important role in maintaining the pluripotency of progenitor cells, the differentiation of cell pedigree and the development of neural crest cells. It is pointed out that the mutation of SOX10 gene causes dysplasia of neural crest cells, resulting in pathological changes in tissues, including endocrine system, peripheral nervous system, circulatory system and skeletal muscle system. At the same time, the mutation of SOX10 gene leads to Kallmann syndrome with deafness, which is a common type of idiopathic hypogonadotropic gonadotropin hypogonadism (IHH), which is associated with congenital hypogonadism and loss of olfactory function. Congenital hypothalamic gonadotropin-releasing hormone (GnRH) neurons are clinically and genetically heterogeneous due to incomplete migration of GnRH neurons. This article reviews the research progress of SOX10 gene and its role in the pathogenesis of KS with deafness.
【作者单位】：南京大学附属金陵医院/南京军区南京总医院中心实验科;东南大学医学院;
【基金】：江苏省科技厅省级科教专项(BM2015020) 南京军区南京总医院院管题(2015046)~~
【分类号】：R588;R764.43

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