Skip to main content
. 2022 Jan 7;12:301. doi: 10.1038/s41598-021-04081-2

Figure 1.

Figure 1

Pedigrees and audiograms of some of the families. All variants were identified by whole-exome sequencing and confirmed by Sanger sequencing. (A) Two novel variants in the CDH23 gene were identified, c.337del, p.(Val113*) and c.3353del, p.(Gly1118Alafs*7), in a patient with Usher signs. (B) Two previously reported variants were identified in CDH23: c.1515-12G > A, reclassified as likely pathogenic after manual curation, and c.1096 G > A, p.(Ala366Thr) classified as benign based on its high population frequency. (C) Postlingual bilateral moderate hearing loss caused by a novel heterozygous variant in EYA4: c.580+2T > C (splicing). (D) One-year-old boy with nonsyndromic isolated prelingual hearing loss and no retinal or vestibular pathologies at the time of study. Novel variants c.733C > T, p.(Gln245*) and c.1344-2A > G (splicing site mutation previously reported in ClinVar) in MYO7A were detected. (E) Two congenital bilateral profound cochlear implanted sisters with variants in LARS2: novel c.1481dup, p.(Leu495Thrfs*31*) and previously reported c.1886C > T, p.(Thr629Met). (F) Previously reported nonsense mutation c.877C > T, p.(Arg293*) in MITF cosegregated with pathology in four affected members of the family with nonsyndromic hearing loss.