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Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism
Francesca Nuti1, Eliana Marinari, Edit Erdei
1Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139 Firenze, Italy.
The Journal of Clinical Endocrinology and Metabolism
|December 13, 2007
Summary
The T222P mutation in the LGR8 gene is not a common cause or susceptibility factor for cryptorchidism. Further research is needed to identify the true genetic cause of this condition.
Area of Science:
- Genetics
- Reproductive Biology
- Endocrinology
Background:
- Insulin-like 3 (INSL3) and its receptor, leucine-rich repeat-containing G protein-coupled receptor 8 (LGR8), are crucial for testicular descent.
- Mutations in these genes can lead to cryptorchidism, a condition where testes fail to descend.
- The T222P missense mutation in LGR8 was previously proposed as a cause of cryptorchidism, potentially due to a founder effect in the Mediterranean.
Purpose of the Study:
- To determine the frequency of the LGR8 T222P mutation across four countries.
- To evaluate the diagnostic utility of screening for the T222P mutation in cryptorchidism.
Main Methods:
- Direct sequencing was used to genotype 822 subjects (359 with cryptorchidism, 463 controls) from Italy, Spain, Hungary, and Egypt.
- Haplotype analysis was performed to investigate mutation origins.
Main Results:
- The T222P mutation was found in both cryptorchid patients (3.6%) and controls (1.7%), with no significant difference.
- Normal testicular descent was observed in individuals with the T222P mutation.
- No significant geographical variations in mutation frequency were detected, and haplotype analysis suggested three distinct mutation events.
Conclusions:
- The T222P mutation in the LGR8 gene is neither causative nor a susceptibility factor for cryptorchidism.
- The actual genetic cause of cryptorchidism related to the LGR8 gene remains unidentified.
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