Novel Mutations in LRTOMT Associated with Congenital Profound Sensorineural Hearing Loss in a Chinese Patient

Objective: the novel mutations in the LRTOMT gene was reported in a Chinese patient with nonsyndromic, congenital profound sensorineural hearing loss. Methods: one boy with hearing loss was enrolled from nonconsanguineous family in the study. Targeted genomic enrichment and massively parallel sequencing of all 415 known hearing loss genes were performed to find possible genetic etiology. Various bioinformatics tools were used to assess the pathogenicity of the variants. Interpretation of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines to identify the genetic cause of hearing loss. Results: compound heterozygotes with a novel nonsense mutation (c.451C>T, p.Arg151X) and a novel missense mutation (c.358G>A, p.Gly120Ser) located in splice site were identified in the LRTOMT gene. The two mutations were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. Nonsyndromic, congenital profound sensorineural hearing loss without detectable residual hearing was found in the patient, and autosomal recessive inheritance was indicated. Conclusion: a novel missense mutation located in splice site was found in the LRTOMT gene in our study. The compound heterozygous mutation increases the spectrum of LRTOMT gene mutations associated with hearing loss in the Chinese population.