PMC8635749_01
Pedigree of the patient's family; black-filled shapes represent individuals with hearing loss, and the unfilled shapes represent unaffected ones. Males are represented by squares, females by circles.
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F1
The pedigree of this family is shown in Figure 1.
Sanger sequencing confirmation of the variants in TRIOBP identified in this study. (A) Sequences of the heterozygous frameshift variant c.1170delC (p.S391Pfs*488) and the corresponding wild-type sequence; (B) Sequences of the heterozygous Nonsense mutation c.3764C > G (p.S1255*) and the corresponding wild-type sequence.
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F2
Sanger sequencing of the proband and family members showed that the proband was compound heterozygous, and the parents and the healthy brother were heterozygous carriers (Figures 2A,B).
(A) Variation spectrum and domain structure of the TRIOBP gene (NM_001039141.2). The variations identified in the proband in this study are represented in box. (B) Conserved amino acid sequences of TRIOBP (amino acid 391 and 1,255) and the predicted truncated TRIOBP caused by the variants identified in this proband.
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F3
TRIOBP and identified that the exon variants were both located in the functional domains (Figure 3A). The positions of the novel variants are highly conserved across several species according to the University of California Santa Cruz Genome Browser database (UCSC) (Figure 3B).