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Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.
Ozguc Caliskan, Busra; Uslu, Kubra; Sinim Kahraman, Neslihan; Erkilic, Kuddusi; Oner, Ayse; Dundar, Munis.
Afiliación
  • Ozguc Caliskan B; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
  • Uslu K; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
  • Sinim Kahraman N; Department of Ophthalmology, Acibadem Kayseri Hospital, Kayseri, Turkey.
  • Erkilic K; Faculty of Medicine, Department of Ophthalmology, Erciyes University, Kayseri, Turkey.
  • Oner A; Department of Ophthalmology, Acibadem Kayseri Hospital, Kayseri, Turkey.
  • Dundar M; Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
Clin Genet ; 106(3): 258-266, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38576124
ABSTRACT
This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500. Bioinformatics analysis using Sophia DDM® SaaS algorithms and ACMG guidelines classified genomic changes. The study involved 354 probands. Disease-causing variants were found in 58.1% of patients, with ABCA4, USH2A, RDH12, and EYS being the most frequently implicated genes. Forty-eight novel variants were detected. This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades de la Retina / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Turquía

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Enfermedades de la Retina / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Turquía