A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report

Abstract

Key Clinical Message We reported a novel variant in Kallmann syndrome. It not only determines the clinical importance of whole exome sequencing for identification of genetic pathogenic variants, but also enriches the ANOS1 genetic spectrum of CHH patients in Chinese population.

Keywords

• ANOS1
• c.1187C>A
• Kallmann syndrome
• novel mutation
• whole exome sequencing