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Abstract Usher syndrome is a rare condition that causes retinitis pigmentosa, as well as sensorineural hearing loss. The edited panel contained all of the USH causative genes as well as four closely related genes. In addition, we found two novel nonsense mutations in CEP250 in a patient with a disease similar to Usher syndrome in which visual impairment is related to cone-rod dystrophy and progressive hearing loss. This strategy gave consistent results for the molecular diagnosis of the disease and enabled the CEP250 gene to be stable for an Usher-like phenotype.
Source link: https://doi.org/10.1038/s41598-018-35085-0
Sequencing in monogenic disorders is a powerful tool for determining novel variants. To determine the causative mutation of DCM in an Iranian pedigree, we used whole-exome sequencing and Sanger sequencing techniques. We hypothesized that the H329Y mutation may have been responsible for the DCM in this family's familial pattern. According to PROCHECK and ERRAT, the predicted models of GATA6 and H329Y displayed the highest quality. Overall, these results showed that the mutation could have an effect on the protein structure, which may be related to GATA6's functional impairment as a result of H329Y mutation, as well as their involvement in pathologies.
Source link: https://doi.org/10.1038/s41598-022-13993-6
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