Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.

A recent study has identified a novel variant in the MYO1D gene that is associated with laterality defects, congenital heart diseases, and sperm defects in humans. Laterality defects involve the abnormal positioning of internal organs, congenital heart diseases affect the structure and function of the heart, and sperm defects can result in male infertility. The MYO1D variant disrupts the protein's function, potentially leading to the developmental issues observed in affected individuals. This research advances our understanding of the genetic basis of these conditions and may lead to the development of targeted treatments. [Extracted from the article]