Nonsense Mutations in<i>FGF8</i>Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

Abstract

We identified the first nonsense mutations in the FGF8 gene in familial IHH with variable degrees of GnRH deficiency and olfactory phenotypes, confirming that loss-of-function mutations in FGF8 cause human GnRH deficiency.