9/2/2023 0 Comments Usher syndrome type 2a carrier![]() ![]() Janecke, Innsbruck Medical University, Austria (2013) Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families. The methodology provides a reliable strategy for routine gene diagnosis of USH.Ĭitation: Huang X-F, Xiang P, Chen J, Xing D-J, Huang N, Min Q, et al. ![]() In conclusion, this study revealed the genetic defects in the USH2A gene and demonstrated the robustness of targeted exome sequencing to precisely and rapidly determine genetic defects. A proband was found to have triple mutations, two of them were supposed to locate in the same chromosome. Biparental mutations in USH2A were revealed in 2 families with pseudo-dominant inheritance. Eleven mutations, eight of them were novel, in the USH2A gene were identified. Through systematic data analysis using established bioinformatics pipeline and segregation analysis, a number of genetic variants were released. A total of 144 known genes of inherited retinal diseases were selected for deep exome resequencing. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were recruited. ![]() This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. ![]()
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