中文摘要：

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SOXIO基因及其在合并耳聋的Ks发病中作用的研究进展展丌综述。

英文摘要：

The transcription factor SOXIO, as a major actor in the development of the neural crest, plays a key role in the main- tenance of progenitor cell muhipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in hu- mans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOXIO can cause Kallmann syndrome （KS）, which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone （GnRH） cells along the olfactory, vomerouasal, and terminal nerves. Since then, there have been a number of related reports that mutation of SOXIO will lead to KS with deafness. This review focuses on the SOXIO gene and the advances in the diagnosis and genetic studies of KS with deafness caused by the mutatuin of SOXIO. Natl J Androl, 2017, 23 （9） ： 838 -841