A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.

摘要: Objective: Hearing loss (HL) is the most common sensory-neural defect and heterogeneous trait in humans, with involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) new strategy that can overcome this problem. Study Design: Descriptive experimental study. Setting: Diagnostic laboratory. Subjects Methods: A comprehensive family history was obtained, clinical evaluations pedigree analysis were performed multiple individuals HL. As first tier, GJB2 sequenced, genetic linkage DFNB1A/B to rule out cause disease. Targeted NGS used unravel etiology disease HL-associated genes proband. Two homozygous variants remained OTOF after proper filtration. Cosegregation silico done. Preimplantation (PGD) accomplished via direct pathogenic variant. Results: Clinical suggested autosomal recessive nonsyndromic variants, c.367G>A (p.Gly123Ser) c.1392+1G>A, identified cis status. c.1392+1G>A met criteria for being according variant interpretation guideline American College Medical Genetics Genomics. PGD successfully prevent recurrence related family. Conclusion: novel mutation causing HL identified. Here, we report effectiveness combined application targeted prevention hereditary © 2018, Academy Otolaryngology–Head Neck Surgery Foundation 2018.