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

Ethics statement

The study complies with the Declaration of Helsinki and was approved by the ethics committee of Huazhong University of Science and Technology in Wuhan, China. The patient consent for participation is waived by the ethics committee for retrospective analysis of the anonymized patient data to be published in this article.

Author contributions

YY, QH, JZ, QZ and XH analyzed and interpreted the data, wrote and revised the manuscript. QZ and XH conceived and performed genetic analysis. QW, LC, TZ and HL were involved in the care of patients. All authors contributed to the article and approved the submitted version.

Funding

This work was supported by grants from the National Natural Science Foundation of China (82173517, 81800762, 81974111 and 82000366).

Data Availability

The original contributions presented in the study are included in the article/supplementary material. Further inquiries can be directed to the corresponding author.

Declaration of Competing Interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Acknowledgments

We are extremely grateful to the patient and their families who have been involved in this study.

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