A New gjb2 Gene Mutation that Causes Non-Syndromic Sensorineural Hearing Loss Detected in a Nigerian Population
DOI:
https://doi.org/10.53555/bp.v2i3.144Keywords:
GJB2,, Connexin 26,, Autosomal recessive non syndromic hearing loss,, Deafness,, MutationAbstract
Mutations in the GJB2 gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic sensorineural hearing loss (SNHL). R143W mutation which is the common mutation in Ghana is widely reported in some journals as the commonest mutation among black Africans. This study examined mutation in GJB2 gene known to be responsible for non-syndromic sensorineural hearing loss and its pattern in our environment using molecular techniques. Data on the age, sex, age at onset of hearing loss, number of affected ears and family history of the patients were obtained through a structured questionnaire. The frequency and severity of hearing loss was
obtained from the pure tone audiometry. Deoxyribonucleic acid (DNA) was isolated from the blood of patients using standard procedures and molecularly evaluated for the presence of mutation in the GJB2 gene. Sequencing was performed in samples whose single strand conformation polymorphism (SSCP) analysis showed a different banding pattern. A novel mutation, P 32 L which caused non-syndromic SNHL, was discovered from this study. A total of 4 probands out of 86 had mutations (4.7%) All the mutations were congenital probands which had severe to profound non-syndromic SNHL.The
results of the study demonstrate that mutations in the GJB2 gene are a major cause of non-syndromic SNHL in the studied population. The importance of molecular tests for genetic counselling is re-enforced by this study.
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