Analysis of TRIOBP gene in non-syndromic deafness: A case report.

RATIONALE: Through family investigation, the genetic map was drawn and audiological characteristics were analyzed. High-throughput sequencing was used to screen the deafness genes of the proband. Sanger sequencing was used to verify the suspected pathogenic sites in the family.

PATIENT CONCERNS: Identify the causes of hearing loss and treatment options.

DIAGNOSES: Bilateral moderate to severe sensorineural deafness.

INTERVENTIONS: After completing the examination, the patient was recommended to wear a hearing aid or do a cochlear implant, but the patient was not treated for personal reasons.

OUTCOMES: All 8 patients in this family were nonsyndromic deafness. The proband had a compound heterozygous mutation of c.A4484T/c.A4510G in the TRIOBP gene, and the patient II-6 had a heterozygous mutation of c.A4484T in the TRIOBP gene. A complex heterozygous mutation of TRIOBP gene c.A4510G/c.G59T was found in II-7, but no reports of pathogenicity of these mutations were found in relevant literatures and databases. In addition, patients II-6, III-4, and III-6 had heterozygous mutations of CHD7 gene c.T2615C and C.3202-5T >C, and patients II-6 and III-4 also had heterozygous mutations of CHD23 gene c.G5312A and c.C6250T.

LESSONS: In this study, a new locus of the TRIOBP gene was found, which enriched the gene mutant spectrum and clarified the pathogenic gene of the proband. However, the etiology of deafness in other members of the family needs to be further analyzed.