ISSN 2394-5125
 

Research Article 


MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali.

Abstract
Hearing impairment is a major disorder ranging from slight, moderate to profound. The genetic cause of the non
syndromic hearing impairment is exceptionally heterogeneous. Despite of this, a change in the connexin genes is
a major contributor. Several mutations in the GJB2 gene and deletion in GJB6 are found to be related with hearing
impairment. The analyses found that the average frequency of GJB2 mutation is varying among different regions.
Materials and Methods: In this manuscript, we have reviewed 12 previous publications. In which around 2546
probands were included to analyse the prevalence and type of mutation in the GJB2 gene.
Results: Our study found several mutations and the common mutations are c.71G>A, c.230G>A, c.235DelC,
c.167delTA, and 35delG. The most common mutation in GJB2 is c.71G>A (p.W24X) followed by 35delG. The
etiology of hearing impairment is of multi-factorial and K+-toxicity is the most accepted hypothesis to explain
the cause of the hearing impairment.
Conclusion: The mutations in the GJB2 gene are responsible for the contribution of up to around 36%. Regarding
GJB2 mutation c.71G>A (p.W24X), a tryptophan stop codon is the most common mutation.

Key words: GJB2, connexin genes, hearing impairment, Indian population and sensory disorder


 
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How to Cite this Article
Pubmed Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. JCR. 2020; 7(4): 2683-2688. doi:10.31838/jcr.07.04.410


Web Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. http://www.jcreview.com/?mno=136083 [Access: June 02, 2021]. doi:10.31838/jcr.07.04.410


AMA (American Medical Association) Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. JCR. 2020; 7(4): 2683-2688. doi:10.31838/jcr.07.04.410



Vancouver/ICMJE Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. JCR. (2020), [cited June 02, 2021]; 7(4): 2683-2688. doi:10.31838/jcr.07.04.410



Harvard Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali (2020) MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. JCR, 7 (4), 2683-2688. doi:10.31838/jcr.07.04.410



Turabian Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. 2020. MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. Journal of Critical Reviews, 7 (4), 2683-2688. doi:10.31838/jcr.07.04.410



Chicago Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. "MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW." Journal of Critical Reviews 7 (2020), 2683-2688. doi:10.31838/jcr.07.04.410



MLA (The Modern Language Association) Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali. "MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW." Journal of Critical Reviews 7.4 (2020), 2683-2688. Print. doi:10.31838/jcr.07.04.410



APA (American Psychological Association) Style

Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar, Oliyath Ali (2020) MUTATIONAL ANALYSIS OF GJB2 GENE CAUSING CONGENITAL NONSYNDROMIC HEARING IMPAIRMENT IN INDIA: A REVIEW. Journal of Critical Reviews, 7 (4), 2683-2688. doi:10.31838/jcr.07.04.410