AI Article Synopsis

  • Autosomal recessive non-syndromic deafness-28 (DFNB28) is a type of prelingual sensorineural hearing loss linked to mutations in the TRIOBP gene, which was identified in a pediatric patient with novel genetic variants.
  • The patient's hearing assessment showed bilateral deafness, and comprehensive whole exome sequencing was used to identify these genetic mutations.
  • The analysis found two significant variants in the TRIOBP gene, with one being classified as pathogenic, suggesting these mutations are likely responsible for the patient's hearing loss, but further research is needed to clarify their effects fully.

Article Abstract

Background: Autosomal recessive non-syndromic deafness-28 (DFNB28; OMIM #609823) specifically refers to prelingual sensorineural hearing loss (SNHL) resulting from homozygous or compound heterozygous mutations in the TRIO- and F-actin-binding protein, gene. In this report, we present a pediatric patient exhibiting novel compound heterozygous deleterious variants in the gene.

Methods: The auditory brainstem response result revealed both left- and right-sided deafness with a threshold of 20 dB normal hearing level in the proband. A comprehensive trio whole exome sequencing (WES) using the Celemics G-Mendeliome Whole Exome Sequencing Panel was employed.

Results: The WES analysis revealed compound heterozygous variants in the proband, namely c.1192_1195delCAACinsT/p.Gln398* classified as pathogenic and c.3661C > T/p.Arg1221Trp categorized as a variant of uncertain significance according to American College of Medical Genetics and Genomics guidelines. These variants are considered the most probable cause of the proband's SNHL.

Conclusion: TRIOBP isoforms are predominantly expressed in the inner ear, contributing to the formation of stereocilia rootlets. Further investigations are required to fully understand the phenotypic variability and establish the pathogenicity of the identified variant in relation to the gene and SNHL.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11408809PMC
http://dx.doi.org/10.1016/j.heliyon.2024.e36717DOI Listing

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