Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism

In a landmark study, our team has unveiled crucial insights into cryptorchidism, a prevalent male birth defect where testicles do not descend properly. By examining the genetic blueprint of affected individuals, we identified new and known genes linked to this condition, primarily on the X chromosome, suggesting a pattern of inheritance from the mother. This discovery, especially the role of the DMD gene, paves the way for advanced diagnostics and treatments. Our findings not only shed light on cryptorchidism’s genetic underpinnings but also open new avenues for personalized medicine, offering hope to families affected by this condition. (By Dr. Jianhai Chen, https://jmg.bmj.com/content/early/2024/04/15/jmg-2024-109896 )

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