Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

European Journal of Medical Genetics - Tập 59 Số 6-7 - Trang 325-329 - 2016
Amina Bakhchane1, Amale Bousfiha1, Hicham Charoute1, Sara Salime1, Mustapha Detsouli1, Khalid Snoussi1, Sellama Nadifi2, Mostafa Kabine3, Hassan Rouba1, Hind Dehbi2, Rachida Roky4, Majida Charif1, Abdelhamid Barakat1
1Institut Pasteur, laboratoire de génétique moléculaire humaine, 20360 Casablanca, Morocco
2Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Casablanca, Morocco
3Laboratoire de Biochimie et Biologie Moléculaire, Université Hassan II, Faculté des Sciences Aïn Chock, Casablanca, Morocco
4Université Hassan II Ain Chock, Laboratoire de Physiologie et génétique moléculaire, Km 8 Route d'El Jadida, B.P. 5366 Maarif, Casablanca 20100, Morocco

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Tài liệu tham khảo

Abe, 2000, Prevalent connexin 26 gene (GJB2) mutations in Japanese, J. Med. Genet., 37, 41, 10.1136/jmg.37.1.41

Abidi, 2007, GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation, Int. J. Pediatr. Otorhinolaryngol., 71, 1239, 10.1016/j.ijporl.2007.04.019

Abidi, 2008, The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population, Biochem. Biophys. Res. Commun., 377, 971, 10.1016/j.bbrc.2008.10.086

Abidi, 2008, Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population, Genet. Test., 12, 569, 10.1089/gte.2008.0063

Ammar-Khodja, 2007, Frequency of the 35delG allele causing nonsyndromic recessive deafness in the Algerian patients, Genet. Couns., 18, 383

Brown, 2012, Molecular diagnosis of hearing loss, Curr. Protoc. Hum. Genet., 16, 10.1002/0471142905.hg0916s72

Chan, 2014, GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype, Laryngoscope, 124, E34, 10.1002/lary.24332

Dai, 2007, The prevalence of the 235delC GJB2 mutation in a Chinese deaf population, Genet. Med., 9, 283, 10.1097/GIM.0b013e31804d2371

Dai, 2009, GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment, J. Transl. Med., 7, 26, 10.1186/1479-5876-7-26

Fuse, 1999, Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness, Neuroreport, 10, 1853, 10.1097/00001756-199906230-00010

Gualandi, 2002, Exploring the clinical and epidemiological complexity of GJB2-linked deafness, Am. J. Med. Genet., 112, 38, 10.1002/ajmg.10621

Han, 2008, Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population, J. Hum. Genet., 53, 1022, 10.1007/s10038-008-0342-7

Hashemzadeh, 2007, Familial and sporadic GJB2-related deafness in Iran: review of gene mutations, Iran. J. Publ. Health, 36, 1

Hilgert, 2009, Function and expression pattern of nonsyndromic deafness genes, Curr. Mol. Med., 9, 546, 10.2174/156652409788488775

Hilgert, 2009, Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?, Mutat. Res., 681, 189, 10.1016/j.mrrev.2008.08.002

Iliades, 2002, Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings, ORL J. Otorhinolaryngol. Relat. Spec., 64, 321, 10.1159/000066088

Janecke, 2002, Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations–phenotypic spectrum and frequencies of GJB2 mutations in Austria, Hum. Genet., 111, 145, 10.1007/s00439-002-0762-y

Jiang, 2014, R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma, Int. J. Pediatr. Otorhinolaryngol., 78, 1461, 10.1016/j.ijporl.2014.06.008

Kelley, 1998, Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss, Am. J. Hum. Genet., 62, 792, 10.1086/301807

Kim, 2013, Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity, PLoS One, 8, e61592, 10.1371/journal.pone.0061592

Lasak, 2014, Hearing loss: diagnosis and management, Prim. Care, 41, 19, 10.1016/j.pop.2013.10.003

Li, 2012, The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment, PLoS One, 7, e36621, 10.1371/journal.pone.0036621

Marlin, 2005, GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients, Arch. Otolaryngol. Head. Neck Surg., 131, 481, 10.1001/archotol.131.6.481

Morell, 1998, Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness, N. Engl. J. Med., 339, 1500, 10.1056/NEJM199811193392103

Murgia, 1999, Cx26 deafness: mutation analysis and clinical variability, J. Med. Genet., 36, 829

Mustapha, 2001, Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene, J. Med. Genet., 38, E36, 10.1136/jmg.38.10.e36

Najmabadi, 2014, Genetics of non-syndromic hearing loss in the Middle East, Int. J. Pediatr. Otorhinolaryngol., 78, 2026, 10.1016/j.ijporl.2014.08.036

Nogueira, 2011, Molecular investigation of pediatric portuguese patients with sensorineural hearing loss, Genet. Res. Int., 2011, 587602

Oliveira, 2002, Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients, Clin. Genet., 61, 354, 10.1034/j.1399-0004.2002.610506.x

Pavithra, 2015, Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family, Ann. Hum. Genet., 79, 76, 10.1111/ahg.12086

Rabionet, 2000, Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene, Hum. Genet., 106, 40, 10.1007/s004390051007

Riahi, 2013, Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss, Gene, 525, 1, 10.1016/j.gene.2013.04.078

Shafique, 2014, Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families, PLoS One, 9, e100146, 10.1371/journal.pone.0100146

Smith, 1993, Deafness and hereditary hearing loss overview

Snoeckx, 2005, GJB2 mutations and degree of hearing loss: a multicenter study, Am. J. Hum. Genet., 77, 945, 10.1086/497996

Tekin, 2005, Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia, Clin. Genet., 67, 31, 10.1111/j.1399-0004.2004.00334.x

Uyguner, 2002, The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family, Clin. Genet., 62, 306, 10.1034/j.1399-0004.2002.620409.x