Achievements in molecular diagnosis of albinism: the use of various methods and evaluating their effectiveness

Abstract

Albinism is a clinically and genetically heterogeneous group of disorders caused by impaired melanin synthesis. There are many genes associated with albinism that have been identified. Isolated and syndromic forms are described. The aim of this study was investigation of the molecular genetic methods effectiveness for the diagnosis of albinism. As a result of the study, it was found that the effectiveness of Sanger sequencing of the TYR gene was 49%, MLPA 7%, targeted panel 21%, whole-exome sequencing (WES) and whole-genome sequencing (WGS) 5% and 18%, respectively. Comprehensive diagnostics of albinism, including TYR gene sequencing, targeted panels, WES, and WGS, is essential for identifying both common and rare forms of the disease, including syndromic cases and structural rearrangements, thereby maximizing the effectiveness of determining genetic causes.