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Usher Syndrome Type 2 in an Iranian Family: A Novel Founder Variation in the Ush2a Gene Publisher



Neissi M1, 2, 3 ; Mohammadiasl J3, 4 ; Mohammadiasl M3 ; Roghani M3 ; Sheikhhosseini M3, 5 ; Issa Albadran A6
Authors

Source: Cell Journal Published:2024


Abstract

This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineural hearing loss (HL) and retinitis pigmentosa (RP), often associated with the USH2A gene. Focusing on an Iranian family exhibiting USH2 symptoms, exome-sequencing was employed for a comprehensive genome analysis in a 30-year-old patient. The investigation unveiled a novel variation (NM_206933.4: c.9389G>A; p.Trp3130*) within exon 48 of the USH2A gene, a previously unreported variant emphasizing the genetic diversity in USH2. Sanger sequencing was then utilized to assess variation segregation within the family, offering insights into the inheritance pattern. This discovery not only advances our understanding of the genetic basis of USH2 but also holds significant implications for genetic counseling, early management, and informed decision-making regarding prenatal options. By adopting an integrated approach, this study aims to empower affected families, facilitating a nuanced understanding of the disorder's complexities and ultimately improving patient outcomes and family well-being through informed decision-making and proactive management strategies. © 2024 Royan Institute (ACECR). All rights reserved.
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