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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

Fig. 1

Structure and variants of TRIOBP in the studied family with HI. a. Pedigree of the analyzed family. Circles and squares represent females and males, respectively. Black arrow denotes the proband, genotypes of the TRIOBP gene are given below the respective symbols. b. Mean audiograms for both ears in all affected siblings (III.1, III.2, III.3) (Y axis presents HI level in dB, X axis presents the tested frequency in kilohertz). c. TRIOBP pathogenic variants identified in this study - Integrative Genomics Viewer (IGV) views for c.802_805delCAGG, p.Gln268Leufs*610 (left panel) and c.5014G>T, p.Gly1672* (right panel). d. Schematic localization of the c.802_805delCAGG, p.Gln268Leufs*610 and c.5014G>T, p.Gly1672* variants within the TRIOBP gene. Upper panels show the TRIOBP gene structure, whereas the lower panels present three isoforms, TRIOBP-5, TRIOBP-4 and TRIOBP-1, respectively. All of them are in the same reading frame. TRIOBP-4 translation starts from an alternative start site in exon 6, whereas TRIOBP-1 translation start is localized within an alternative exon 11a. Numbers given below the particular isoforms denote first and last amino acid

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BMC Medical Genetics

ISSN: 1471-2350

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