Prevalence of GJB2 mutations in prelingual deafness in the Greek population

Παμπάνος, Ανδρέας; Economides, John R.; Iliadou, Vasiliki Vivian; Neou, P.; Leotsakos, P.; Voyiatzis, Nikolaos; Eleftheriades, Nikolaos; Tsakanikos, Michael; Antoniadi, Thalia; Hatzaki, A.; Konstantopoulou, Irene; Yannoukakos, Drakoulis; Grønskov, Karen; Brøndum‐Nielsen, Karen; Grigoriadou, Maria; Gyftodimou, Jolanda; Iliades, Theophilos; Skevas, A.; Petersen, Michael B.

doi:10.1016/s0165-5876(02)00177-5

Cited by 65 publications

(59 citation statements)

References 45 publications

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“…In most of the previously reported studies, the prevalence of GJB2 mutations is significantly higher in the familial group of NSSNHL than in the sporadic cases [Denoyelle et al, 1999;Löffler et al, 2001;Pampanos et al, 2002]. The absence of any difference between the sporadic and the familial cases in the present study and in others [Frei et al, 2002] could be explained by the use of defined protocols which minimize the risk of including cases of acquired or syndromic hearing impairment in the sporadic group.…”

Section: Resultscontrasting

confidence: 39%

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Feldmann

Denoyelle

Chauvin

et al. 2004

American J of Med Genetics Pt A

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Recent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1. 32% of the patients had biallelic GJB2 mutations and 6% were a heterozygous for a GJB2 mutation and a GJB6 deletion. Biallelic GJB2 mutations and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children. Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss.

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Section: Resultscontrasting

confidence: 39%

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Feldmann

Denoyelle

Chauvin

et al. 2004

American J of Med Genetics Pt A

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“…A prevalence of 3% was also assessed for each one of the mutations V37I and Delta (GJB6-D13S1830), found in the study. These results are concordant with previous studies reported in the literature, conducted in several populations [22][23][24][25][26] . The relative contribution of the 35delG mutation to the non-syndromic hearing loss in these populations varied from 0% (Oman, Korea, Japan) to 70% (Italy, Spain, Greece), demonstrating the genetic heterogeneity among the different countries, even though some of these …”

Section: Discussionsupporting

confidence: 93%

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

Piatto

Moreira

Silva

et al. 2007

Rev. Bras. Otorrinolaringol.

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Mutações no gene da conexina 26 parecem ser extremamente comuns na gênese da surdez hereditária não-sindrômica, especialmente, a mutação 35delG, mas ainda há poucos estudos que descrevem as características audiométricas dos pacientes portadores dessas mutações. OBJETIVO: Analisar as características audiométricas em pacientes com mutações no gene da conexina 26 para se delinear uma correlação genótipo-fenótipo. CASUÍSTICA E MÉTODO: Foram avaliadas audiometrias tonal de 33 casos-índice com surdez sensorioneural não-sindrômica e de 8 familiares afetados. Testes moleculares específicos foram realizados para analisar mutações no gene da conexina 26. FORMA DE ESTUDO: Estudo de casos, retrospectivo, em corte transversal. RESULTADOS: Foram encontradas as prevalências de 27,3% da mutação 35delG nos casos-índice e de 12,5% nos familiares afetados. Em relação aos graus de perda, foram encontrados, 41,5% dos pacientes com grau profundo, 39,0% com grau grave e 19,5% com grau moderado com, os pacientes homozigotos e heterozigotos para 35delG, predominando nos graus moderado-grave. CONCLUSÃO: Estes resultados sugerem que os dados audiométricos, associados ao diagnóstico molecular para a surdez, permitiram delinear uma correlação genótipo-fenótipo em dez pacientes com a mutação 35delG. Mas é necessário estudo multicêntrico para se verificar a real expressão fenotípica na população brasileira relacionada à mutação 35delG.

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“…The finding of a high prevalence of the W24X mutation in Slovak and Spanish gypsies and in India traces the origins of the mutation to the Indian subcontinent and suggests that this GJB2 mutant allele may be the commonest in other European Romani populations. In fact, W24X has been reported in Czech gypsies [Seeman et al, 2004], and, without any indication of ethnicity, in Turkey [Uyguner et al, 2003], Hungary [Toth et al, 2004], Austria [Frei et al, 2002], Greece [Pampanos et al, 2002], and France [Roux et al, 2004], countries which have significant Romani minorities. In this work, we have found five different haplotypes associated with the W24X mutation, all of them sharing the same allele from marker D13S141, and 90% sharing also the same allele from marker (TG) n , suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish gypsies.…”

Section: Discussionmentioning

confidence: 99%

High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss

Álvarez

Castillo

Villamar

et al. 2005

American J of Med Genetics Pt A

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Molecular testing for mutations in the gene encoding connexin-26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non-syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populations, different alleles predominating in different ethnic groups. A cohort of 34 families of Spanish Romani (gypsies) with ARNSHI was screened for mutations in GJB2. We found that DFNB1 deafness accounts for 50% of all ARNSHI in Spanish gypsies. The predominating allele is W24X (79% of the DFNB1 alleles), and 35delG is the second most common allele (17%). An allele-specific PCR test was developed for the detection of the W24X mutation. By using this test, carrier frequencies were determined in two sample groups of gypsies from different Spanish regions (Andalusia and Catalonia), being 4% and 0%, respectively. Haplotype analysis for microsatellite markers closely flanking the GJB2 gene revealed five different haplotypes associated with the W24X mutation, all sharing the same allele from marker D13S141, suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish gypsies.

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Prevalence of GJB2 mutations in prelingual deafness in the Greek population

Cited by 65 publications

References 45 publications

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

High prevalence of the W24X mutation in the gene encoding connexin‐26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non‐syndromic hearing loss

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