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