Fig. 1

Overview of the three novel OTOF Variants. A Short-read sequencing (SRS) revealed all three novel variants, c.3864G > A (p.Ala1288 =), c.5813 + 2T > C, and c.4501G > A (p.Ala1501Thr), form compound heterozygosity with another pathogenic variant. B The missense variant c.4501G > A (p.Ala1501Thr) was classified as pathogenic based on multiple in silico prediction scores. C Multiple sequence alignment demonstrates the high conservation of the c.4501G > A (p.Ala1501Thr) coding region (located at the 5’ end of exon 37) across species. Homologous sequences for this alignment were obtained from the UCSC database (Table S1). Abbreviations: D (damaging); PD (possibly damaging)