GJB2 gene mutations causing hearing loss in consanguineous Pakistani families

Shehla Anjum, Aysha Azhar, Muhammad Tariq, Shahid Mahmood Baig, Hanno J. Bolz, Mazhar Qayyum, Syed Muhammad Saqlan Naqvi, Ghazala Kaukab Raja

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


Because of the availability of highly consanguineous population and large family size, Pakistani population has been a rich source for genetic investigations of autosomal recessive disorders such as deafness. In this study, we recruited 20 consanguineous Pakistani families segregating autosomal recessive hearing loss. Sequencing the GJB2 gene revealed six mutations in 10 families which were previously reported to cause genetic deafness in various populations across the world. Seven of these families were homozygous while three were compound heterozygous for two different mutations. The high ratio of compound heterozygosity in these families indicates that GJB2 mutations are prevalent in our population. According to our findings p.Trp24* was found to be the most frequent GJB2 mutation in Pakistan. Therefore, screening our population for this mutation can play a crucial role in lowering down the incidence of hearing loss in Pakistan.

Original languageEnglish
Pages (from-to)126-131
Number of pages6
JournalPakistan Journal of Life and Social Sciences
Issue number3
Publication statusPublished - 2014
Externally publishedYes


  • Compound heterozygosity
  • Connexin26
  • Deafness
  • GJB2
  • Hearing loss


Dive into the research topics of 'GJB2 gene mutations causing hearing loss in consanguineous Pakistani families'. Together they form a unique fingerprint.

Cite this