国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 186-190.

• 综述 • 上一篇    下一篇

Kallmann综合征遗传学研究进展

刘梦莹，邬玲仟   

  1. 410078 长沙，中南大学医学遗传学国家重点实验室
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 邬玲仟

Advances in Genetic Study of Kallmann Syndrome

LIU Meng-ying，WU Ling-qian   

  1. State Key Laboratory of Medical Genetics，Central South University，Changsha 410078，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: WU Ling-qian

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摘要： 卡尔曼综合征（Kallmann syndrome，KS）是一种先天性促性腺功能低下和嗅觉缺失联合出现的疾病。该病具有高度的临床异质性和遗传异质性，目前对该病的研究发现有18个相关致病基因，分别为KAL1、FGFR1、PROKR2、PROK2、CHD7、FGF8、WDR11、NELF、HS6ST1、SEMA3A、HESX1、SOX10、IL17RD、 FGF17、SPRY4、DUSP6、FLRT3和AXL，然而这些基因中研究相对透彻的前6种基因（KAL1、FGFR1、PROKR2、PROK2、CHD7、FGF8）仅约占其致病因素的30%，仍有约70%的致病因素和机制未知。综述KS的临床评估、发病机制、相关致病基因研究新进展以及该病的部分可逆性和早期诊断等。

关键词: 卡尔曼综合征, 分子生物学, 表型, 遗传异质性, 诊断

Abstract: Kallmann syndrome（KS） is a complicated human genetic disorder with congenital hypogonadotropic hypogonadism（HH） and anosmia or hyposmia. It is also a genetically and clinically heterogeneous disease. Eighteen genes were found to be related to KS，including KAL1，FGFR1，PROKR2，PROK2，CHD7，FGF8，WDR11，NELF，HS6ST1，SEMA3A，HESX1，SOX10，IL17RD，FGF17，SPRY4，DUSP6，FLRT3 and AXL. However，only six genes（KAL1，FGFR1，PROKR2，PROK2，CHD7 and FGF8） were identified, which covered approximately 30% of the KS cases. Actually, genic mutations in about 70% of KS cases were unknown. The clinical assessment and genetic aspects of KS, as well as its partial reversibility and early diagnosis, were hereby reviewed.

Key words: Kallmann syndrome, Molecular biology, Phenotype, Genetic heterogeneity, Diagnosis