usher syndrome type 2 in an iranian family: a novel founder variation in the ush2a gene

This study delves into usher syndrome type 2 (ush2), an uncommon genetic disorder characterized by sensorineuralhearing loss (hl) and retinitis pigmentosa (rp), often associated with the ush2a gene. focusing on an iranian familyexhibiting ush2 symptoms, exome-sequencing was employed for a comprehensive genome analysis in a 30-yearoldpatient. the investigation unveiled a novel variation (nm_206933.4: c.9389g>a; p.trp3130*) within exon 48 ofthe ush2a gene, a previously unreported variant emphasizing the genetic diversity in ush2. sanger sequencingwas then utilized to assess variation segregation within the family, offering insights into the inheritance pattern. thisdiscovery not only advances our understanding of the genetic basis of ush2 but also holds significant implicationsfor genetic counseling, early management, and informed decision-making regarding prenatal options. by adoptingan integrated approach, this study aims to empower affected families, facilitating a nuanced understanding of thedisorder’s complexities and ultimately improving patient outcomes and family well-being through informed decisionmaking and proactive management strategies.