Kallmann综合征(Kallmann syndrome,KS)是一种罕见的伴有嗅觉缺失的先天性促性腺功能低下疾病,呈家族性或散发性发病,具有明显的遗传异质性.目前只有KAL1、FGFR1、PROKR2、PROK2、CHD7以及FGF8被鉴定为KS致病基因,但只能解释25% ~ 30%的KS病例.对WDR11、NELF、HS6ST1、DUSP6、SPYR4、IL17RD、SEMA3A、HESX1等KS的候选基因研究较少.文章就以上kallmann候选基因的研究进展进行综述.%Kallmann syndrome (KS) is a rare congenital hypogonadism associated with olfactory loss.It is familial or sporadic and has significant genetic heterogeneity.Only KAL1,FGFR1,PROKR2,PROK2,CHD7 and FGF8 are identified as KS pathogenic genes at present,but only in 25% to 30% of KS cases.There are few candidate genes for KS in WDR11,NELF,HS6ST1,DUSP6,SPYR4,IL17RD,SEMA3A and HESX1.In this paper,the progress of Kallmann candidate genes is reviewed.
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