Abstract
Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. This study aimed to identify pathogenic variants in a patient with HL. Genomic DNA obtained from a 33-year-old woman with HL was evaluated using a disease-targeted gene panel. Using next generation sequencing and bioinformatics analysis, we identified two novel TRIOBP c.1170delC (p.S391Pfs*488) and c.3764C > G (p.S1255*) variants. Both parents of the patient were heterozygous carriers of the gene. The two variants have not been reported in general population databases or published literature. The findings of this study will broaden the spectrum of pathogenic variants in the TRIOBP gene.
Highlights
Hearing loss (HL) is one of the most common sensory disorders in humans, affecting 466 million people worldwide
We present a family with isolated, prelingual hearing loss (HL) with a recessive inheritance pattern, using 162 targeted genes, a mitochondrial whole gene enrichment panel and Sanger sequencing to identify two novel TRIO and F-actin binding protein (TRIOBP) pathogenic variants (c.1170delC, p.S391Pfs*488 and c.3764C > G, p.S1255*) and establish a molecular diagnosis
To verify the variations found in the TRIOBP gene, Sanger sequencing was performed on samples obtained from the proband and her parents
Summary
Hearing loss (HL) is one of the most common sensory disorders in humans, affecting 466 million people worldwide. TRIOBP-4 is a 1,144 amino acid protein in humans, which is highly expressed in the hair cells of the inner ear and is crucial for the bundling of actin in the stereocilia of the inner ear, with variants in it causing severe or profound hearing loss (Shin et al, 2010; Beti et al, 2020). We present a family with isolated, prelingual HL with a recessive inheritance pattern, using 162 targeted genes, a mitochondrial whole gene enrichment panel and Sanger sequencing to identify two novel TRIOBP pathogenic variants (c.1170delC, p.S391Pfs*488 and c.3764C > G, p.S1255*) and establish a molecular diagnosis. To verify the variations found in the TRIOBP gene, Sanger sequencing was performed on samples obtained from the proband and her parents.
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