PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance

Abstract

Kallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype. Herein, we reported a 32-year-old male patient with Kallmann syndrome in a family associated with heterozygous mutations in PROKR2 and SPRY4 genes. The genotyping results indicated PROKR2 mutations and SPRY4 variants of uncertain significance, which might be incompletely penetrant in this family.

Keywords

• Kallmann syndrome
• PROKR2
• SPRY4
• Incomplete penetrance