Association of recurrent A1090E variant of OTOFERLIN (OTOF) gene with non-syndromic hereditary sensorineural hearing loss in Pakistani population

• Published in: Khyber Medical University journal 2023-10, Vol.15 (4), p.218-22
• Main Authors: Isma Riaz, Amir Rashid, Asifa Majeed, Kashif Obaid Khan Niazi, Hammad Gul Khan
• Format: Article
• Language: English
• Subjects: a1090e variant; autosomal recessive hearing loss; cochlear implants; hearing loss; hearing loss, sensorineural; non-syndromic hearing loss; otoferlin; pakistan
• ISSN: 2305-2643; 2305-2651
• DOI: 10.35845/kmuj.2023.23442

OBJECTIVES: To detect the presence of the otoferlin A1090E variant and investigate its potential correlation with severe to profound non-syndromic hereditary sensorineural hearing loss (NSHSHL) in Pakistani cochlear implant recipients.   METHODS: This case-control study, conducted from January to December 2022, comprised 100 cases of age 6 months to 10 years of severe to profound NSHSHL who had undergone cochlear implant at ENT Department CMH Rawalpindi, and 100 healthy age matched individuals recruited from CMH Rawalpindi. Blood samples underwent DNA extraction, polymerase chain reaction, and subsequent restriction fragment length polymorphism (RFLP) analysis at the Center for Research in Experimental and Applied Medicine, Army Medical College, Rawalpindi. RESULTS: Mean age of wild homozygous genotype CC, mutant homozygous genotype AA and heterozygous genotype CA was 1.38±0.49; 1.50±0.53 and 1.71±0.49years respectively. Under the recessive model, the A1090E variant did not correlate with NSHSHL, evidenced by the odds ratio for mutant homozygous genotype AA at 0.23. The variant's genotype deviated from Hardy-Weinberg Equilibrium (p