Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.

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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Autores principales:	Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b09ebabda2214a78a3e39dd7cc643208
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spelling	oai:doaj.org-article:b09ebabda2214a78a3e39dd7cc6432082021-12-02T20:13:32ZDisease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.1932-620310.1371/journal.pone.0259083https://doaj.org/article/b09ebabda2214a78a3e39dd7cc6432082021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0259083https://doaj.org/toc/1932-6203Hearing 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.Nabila KausarAsma HaqueMuhammad Shareef MasoudNazia NahidUsman Ali AshfaqAli Muhammad WaryahRashid BhattiMuhammad QasimPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 10, p e0259083 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Nabila Kausar Asma Haque Muhammad Shareef Masoud Nazia Nahid Usman Ali Ashfaq Ali Muhammad Waryah Rashid Bhatti Muhammad Qasim Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
description	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.
format	article
author	Nabila Kausar Asma Haque Muhammad Shareef Masoud Nazia Nahid Usman Ali Ashfaq Ali Muhammad Waryah Rashid Bhatti Muhammad Qasim
author_facet	Nabila Kausar Asma Haque Muhammad Shareef Masoud Nazia Nahid Usman Ali Ashfaq Ali Muhammad Waryah Rashid Bhatti Muhammad Qasim
author_sort	Nabila Kausar
title	Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
title_short	Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
title_full	Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
title_fullStr	Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
title_full_unstemmed	Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.
title_sort	disease-associated variants of gap junction beta 2 protein (gjb2) in the deaf population of southern punjab of pakistan.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/b09ebabda2214a78a3e39dd7cc643208
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Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.

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