Article
Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism.
Clinical genetics - 1 May 2026
Li Yuting, Zhang Pingchuan, Guan Jun, He Chengli, Fu Jianglan, Zheng Ruizhi, Chen Danna, Tang Xiong, Men Meichao, Chen Zhiheng, Li Jia-Da
Abstract excerpt
To determine the prevalence of CHD7, FGFR1 and ANOS1 variants and the impacts of their splicing variants on mis-splicing in patients with congenital hypogonadotropic hypogonadism (CHH). Based on the whole-exome sequencing data from 280 CHH probands, we identified 15 potential splice-site variants in CHD7, ANOS1 and FGFR1 by using in silico software. The functional consequences of these variants were analyzed by...
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