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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

International ophthalmology - 1 Dec 2023

Türkyılmaz Ayberk, Kaplan Ayşin Tuba, Öskan Yalçın Sibel, Sağer Safiye Güneş, Şimşek Şaban

Abstract excerpt

PURPOSE: The present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis. METHODS: In the present study, ophthalmologic results and pedigree analysis of the families of 12 patients with non-syndromic CC were evaluated. WES analysis was conducted after DNA was isolated from peripheral blood samples obtained from the patients. RESULTS:...

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PMID: 37592116
DOI: 10.1007/s10792-023-02857-1

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