Disease-associated variants of Gap Junction Beta 2 protein

Hearing impairment (HI) is a highly heterogeneous genetic disorder and is classified into nonsyndromic (without any other clinical manifestations) and syndromic (if combined with other clinical presentations) forms. Variations in GJB2 gene are the leading cause of autosomal recessive nonsyndromic he...

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Bibliographic Details
Published in:PloS one 2021-10, Vol.16 (10), p.e0259083
Main Authors: Kausar, Nabila, Haque, Asma, Masoud, Muhammad Shareef, Nahid, Nazia, Ashfaq, Usman Ali, Waryah, Ali Muhammad, Bhatti, Rashid, Qasim, Muhammad
Format: Article
Language:English
Subjects:
Deafness
Development and progression
Diagnosis
Genetic aspects
Genetic disorders
Identification and classification
Membrane proteins
Risk factors
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Summary:Hearing impairment (HI) is a highly heterogeneous genetic disorder and is classified into nonsyndromic (without any other clinical manifestations) and syndromic (if combined with other clinical presentations) forms. Variations in GJB2 gene are the leading cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in several populations worldwide. This study was carried out to investigate the prevalence of GJB2 variations in severe-to-profound hearing impaired families of Southern Punjab of Pakistan. Ten families segregating ARNSHL were recruited from different areas of the region. Sanger sequencing of GJB2 coding region was carried out. In two out of ten families, NM_004004:c.*71G>A (p.(Trp24*)) and NM_004004:c.358_360del (p.(Glu120del)) homozygous variants were identified as the cause of hearing loss. Our study showed that GJB2-related hearing loss accounts for at least 20% of all cases with severe-to-profound hearing loss in the Southern Punjab population of Pakistan.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0259083