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Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

PURPOSE: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. METHODS: Patients’ data—including demographic, clinical, and genetic information—were obtained through mem...

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Detalles Bibliográficos
Autores principales: Ben Yosef, Tamar, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A., Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M., Hitti-Malin, Rebekkah J., Weiner, Chen, Roosing, Susanne, Cremers, Frans P. M., Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, Sharon, Dror, Ehrenberg, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243676/
https://www.ncbi.nlm.nih.gov/pubmed/37287645
Descripción
Sumario:PURPOSE: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. METHODS: Patients’ data—including demographic, clinical, and genetic information—were obtained through members of the Israeli Inherited Retinal Disease Consortium (IIRDC). Genetic analysis was performed by either Sanger sequencing for founder mutations or next-generation sequencing (targeted next-generation sequencing or whole-exome sequencing). RESULTS: Forty-two patients (58% female) from 36 families were included, and their ages ranged from one year to 82 years. Their most common phenotypes were Stargardt disease (36%) and nonsyndromic retinitis pigmentosa (33%), while their most common mode of inheritance was autosomal recessive inheritance. Genetic diagnoses were ascertained for 72% of genetically analyzed patients. The most frequent gene involved was ABCA4. Overall, 16 distinct IRD mutations were identified, nine of which are novel. One of them, ABCA4-c.6077delT, is likely a founder mutation among the studied population. CONCLUSIONS: This study is the first to describe IRDs’ phenotypic and molecular characteristics in the Ethiopian Jewish community. Most of the identified variants are rare. Our findings can help caregivers with clinical and molecular diagnosis and, we hope, enable adequate therapy in the near future.