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

Yuanfan Yuan; Qianqian Huang; Jiehan Zhang; Zehua Zhou; Qing Wan; Lulu Chen; Tianshu Zeng; Huiqing Li; Qiao Zhang; Xiang Hu

doi:10.1016/j.gmg.2025.100037

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

Glob Med Genet. 2025 Jan 18;12(2):100037. doi: 10.1016/j.gmg.2025.100037. eCollection 2025 Jun.

Authors

Yuanfan Yuan^{1

2

3}, Qianqian Huang^{1

2}, Jiehan Zhang^{1

2}, Zehua Zhou^{1

4}, Qing Wan^{1

2}, Lulu Chen^{1

2}, Tianshu Zeng^{1

2}, Huiqing Li^{1

2}, Qiao Zhang⁵, Xiang Hu^{1

2}

Affiliations

¹ Department of Endocrinology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
² Hubei Provincial Clinical Research Center for Diabetes and Metabolic Disorders, Wuhan 430022, China.
³ The First Clinical School, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
⁴ Department of Endocrinology, Hubei Xianfeng County Hospital of Traditional Chinese Medicine, Enshi 445600, Hubei, China.
⁵ Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

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: Incomplete penetrance; Kallmann syndrome; PROKR2; SPRY4.

Publication types

Case Reports