Abstract
STUDY OF CONNEXIN 26 (GJB2) MUTATIONS IN NON-SYNDROMIC HEARING LOSS CASES OF EASTERN INDIA.

Babuji Santra*(MSc, Research Fellow), Dr. Gargi Podder (MSc, PhD. Research Associate), Dr. Ranjan Raychowdhury (MS. Professor), Dr. Amitabha Roychoudhury (MS. Professor), Dr. Madhusnata De (MSc, PhD. Professor)

ABSTRACT

Introduction: Hearing impairment is the most frequent sensory deficit in human populations, affecting more than 250 million people in the world. The incidence of hearing loss in India is found to be 1 to 6 per 1000 newborns screened, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive manner, accounting for approximately 85% of nonsyndromic hearing loss (NSHL). Mutations in GJB2 gene are the leading cause of deafness in autosomal recessive inheritance, and the 167delT mutation is the most common in many ethnic groups. The present study aims to study the genetic cause of deafness by genetic screening of the GJB2 gene in eastern India. Material and methods: Patients with sensorineural congenital hearing impairment (HI) were selected after obtaining their consents. Clinical samples were tested using PCR/RFLP for 167delT mutations. PCR was used to amplify regions of the exon 2 of connexin 26 and PCR products were analyzed using Pst I restriction enzyme. Results: Blood samples of 77 NSHL patients and age-sex matched 30 unaffected healthy control was analyzed for 167 delT mutation. All samples were included for PCR. Twelve (15.58%) of 77 NSHL cases showed homozygous mutation for 167 delT, ten (12.99%) of 77 NSHL cases showed heterozygous mutation and fifty five (71.43%) of 77 NSHL cases are wild type. For healthy individuals, all cases are wild type. Conclusions: These finding leads to accurate genetic counseling for family members and makes it possible to provide early rehabilitation for the children in affected families. Acknowledgment: The authors are thankful to the Secretary, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratisthan (RKMSP), Kolkata, for providing permission to conduct the study. We are also thankful to all the Doctors of ENT dept. for their valuable suggestions and necessary assistance. We are also thankful to the technicians of RKMSP for technical assistance. This research was supported by the CSIR, New Delhi, India and VIMS, Kolkata, India.

Keywords: Hearing impairment; Hereditary; Connexin 26; 167delT mutation.


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