Research Article
Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations
Table 1
FGFR1 mutation type, specific site information, and pathogenicity.
| Mutation types | Mutation site | Inherited | Pathogenicity |
| Missense mutation | p.V184M (c.550G > A) | Unknown | Likely pathogenic | p.R477T (c.1430G > C) | Unknown | Uncertain | p.A342V (c.1025C > T) | Unknown | Uncertain | p.F186I (c.556T > A) | Unknown | Uncertain | p.H452P (c.1355A > C) | Unknown | Uncertain | p.V184M (c.550G > A) | Unknown | Likely pathogenic | p.T340M (c.1019C > T) | Unknown | Likely pathogenic | p.G260R (c.778G > C) | De novo | Likely pathogenic | p.R254W (c.760C > T) | De novo | Likely pathogenic | p.R424H (c.1271G > A) | Unknown | Uncertain | p.R165Q (c.494G > A) | Unknown | Uncertain |
| Frame shift mutation | p.L188Hfs5 (c.562_563insAC) | De novo | Pathogenic | p.Y280Lfs2 (c.838dupT) | De novo | Pathogenic |
| Deletion mutation | p.733_733del (c.2197_2199delATG) | Unknown | Uncertain |
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