PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance
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 h...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-06-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2699940425000384 |
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| Summary: | 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. |
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| ISSN: | 2699-9404 |