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International Journal of Audiology Volume 51, 2012 - Issue 3
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Research Article

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

M. Khalifa Alkowari *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
G. GirottoDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, Italy
,
K. Abdulhadi *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
S. DipresaDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, Italy
,
R. Siam *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
,
N. NajjarAudiology and Balance Unit, National Program for Early Detection of Hearing Loss, WH, Hamad Medical Corporation (HMC), Doha, Qatar
,
R. Badii *Molecular Genetics Laboratory; Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar
&
P. GaspariniDepartment of Reproductive Sciences and Development and Public Health, Institute of Child Health IRCCS-Burlo Garofolo, University of Trieste, ItalyCorrespondence[email protected]
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Pages 181-185 | Received 29 Dec 2011, Accepted 19 Sep 2011, Published online: 21 Nov 2011

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Anna Morgan, Paolo Gasparini & Giorgia Girotto. (2020) Molecular testing for the study of non-syndromic hearing loss. Hearing, Balance and Communication 18:4, pages 270-277.
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Jie Chen, Qinjun Wei, Jun Yao, Xiaoyun Qian, Yanhong Dai, Ye Yang, Xin Cao & Xia Gao. (2013) Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings. International Journal of Audiology 52:2, pages 134-138.
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Articles from other publishers (19)

Abdullah Al Mutery, Mona Mahfood, Jihen Chouchen & Abdelaziz Tlili. (2021) Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries. Human Genetics 141:3-4, pages 595-605.
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Mona Mahfood, Jihen Chouchen, Walaa Kamal Eddine Ahmad Mohamed, Abdullah Al Mutery, Rania Harati & Abdelaziz Tlili. (2021) Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process. Saudi Journal of Biological Sciences 28:8, pages 4421-4429.
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Anna Morgan, Paolo Gasparini & Giorgia Girotto. 2021. Clinical DNA Variant Interpretation. Clinical DNA Variant Interpretation 305 322 .
Walaa Kamal Eldin Mohamed, Marc Arnoux, Thyago H.S. Cardoso, Abdullah Almutery & Abdelaziz Tlili. (2020) Mitochondrial mutations in non-syndromic hearing loss at UAE. International Journal of Pediatric Otorhinolaryngology 138, pages 110286.
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Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Daniel Wonder Nayo-Gyan, Maame Boatemaa Ansong, Osbourne Quaye, Gordon A. Awandare & Ambroise Wonkam. (2020) Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life 10:11, pages 258.
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Mariem Sidenna, Tasnim Fadl & Hatem Zayed. (2020) Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review. Otology & Neurotology 41:2, pages e152-e162.
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Yan Sun, Jing Yuan, Limin Wu, Min Li, Xiaoli Cui, Chengbin Yan, Lique Du, Liangwei Mao, Jianfen Man, Wei Li, Karsten Kristiansen, Xuan Wu, Weijun Pan & Yun Yang. (2019) Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. Medicine 98:12, pages e14860.
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Hazem Kaheel, Andreas Breß, Mohamed A. Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H. Y. Bakhit & Marlies Kniper. (2018) Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment. BMC Ear, Nose and Throat Disorders 18:1.
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Abdelaziz TliliAbdullah Al MuteryWalaa Kamal Eddine Ahmad MohamedMona MahfoodHassen Hadj Kacem. (2017) Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss . Genetic Testing and Molecular Biomarkers 21:11, pages 686-691.
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A. V. Solovyev, N. A. Barashkov, M. S. Bady-Khoo, M. V. Zytsar, O. L. Posukh, G. P. Romanov, A. M. Rafailov, N. N. Sazonov, A. N. Alexeev, L. U. Dzhemileva, E. K. Khusnutdinova & S. A. Fedorova. (2017) Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia. Russian Journal of Genetics 53:8, pages 936-941.
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Moza K. Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto & Khalid Abdulhadi. (2017) Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 800-802, pages 29-36.
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S. Naz, A. Imtiaz, G. Mujtaba, A. Maqsood, R. Bashir, I. Bukhari, M.R. Khan, M. Ramzan, A. Fatima, A.U. Rehman, M. Iqbal, T. Chaudhry, M. Lund, C.C. Brewer, R.J. Morell & T.B. Friedman. (2017) Genetic causes of moderate to severe hearing loss point to modifiers. Clinical Genetics 91:4, pages 589-598.
Crossref
F. Zonta, G. Girotto, D. Buratto, G. Crispino, A. Morgan, K. Abdulhadi, M. Alkowari, R. Badii, P. Gasparini & F. Mammano. (2015) The p.Cys169Tyr variant of connexin 26 is not a polymorphism. Human Molecular Genetics 24:9, pages 2641-2648.
Crossref
D. Vozzi, A. Morgan, D. Vuckovic, A. D'Eustacchio, K. Abdulhadi, E. Rubinato, R. Badii, P. Gasparini & G. Girotto. (2014) Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. Gene 542:2, pages 209-216.
Crossref
L. Varga, I. Mašindová, M. Hučková, Z. Kabátová, D. Gašperíková, I. Klimeš & M. Profant. (2013) Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications. European Archives of Oto-Rhino-Laryngology 271:6, pages 1401-1407.
Crossref
Dylan K. Chan & Kay W. Chang. (2014) GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype. The Laryngoscope 124:2, pages E34-E53.
Crossref
Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P. Steel, Ramin Badii & Paolo Gasparini. (2013) Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss. PLoS ONE 8:12, pages e80323.
Crossref
Najla Mezghani, Mouna Mnif, Emna Mkaouar-Rebai, Nozha Kallel, Nadia Charfi, Mohamed Abid & Faiza Fakhfakh. (2013) A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions. Biochemical and Biophysical Research Communications 431:4, pages 670-674.
Crossref
K Abdul Hadi, A Salahaldin, A Al Qahtani, Z Al Musleh, M Al Sulaitin, A Bener, P Chandra & F Alawi. (2012) Universal neonatal hearing screening: Six years of experience in Qatar. Qatar Medical Journal 2012:2, pages 12.
Crossref

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