Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan
Rattachement africain : pk. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
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.
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Où se fait cette recherche
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Government College University pays non établi dans la noticeUniversité ou école supérieure
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Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology pays non établi dans la noticeUniversité ou école supérieure
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Liaquat University of Medical & Health Sciences pays non établi dans la noticeUniversité ou école supérieure
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University of the Punjab pays non établi dans la noticeUniversité ou école supérieure
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Centre of Excellence in Molecular Biology pays non établi dans la noticeUniversité ou école supérieure
Government College University, Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology et Liaquat University of Medical & Health Sciences, avec 2 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.