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Article

A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.

Gene - 5 Feb 2020

Jiang Xiaohui, Li Dingming, Gao Yanzi, Zhang Xueguang, Wang Xiang, Yang Yihong, Shen Ying

Abstract excerpt

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic disease caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH), leading to absence or delayed sexual development. Kallmann syndrome (KS) is characterized by IHH with anosmia or hyposmia. Here, we identified a novel splice site variant (c. 726+2T>G) of ANOS1 gene in three siblings with KS from a Chinese Han family by whole-exome...

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PMID: 31669640
DOI: 10.1016/j.gene.2019.144177

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