Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population

Gravina, Luis Pablo; Foncuberta, María Eugenia; Estrada, Rosaura Caron; Barreiro, Cristina; Chertkoff, Lilien

doi:10.1016/j.ijporl.2006.12.015

Cited by 29 publications

(24 citation statements)

References 25 publications

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“…The data presented in this study substantially extend our previous report [Dalamon et al, 2005] and indicate that mutations in the GJB2 gene are prevalent in Argentinean patients with non-syndromic sensorineural HI. The high frequency of the c.35delG mutation in our group correlates with our previous published data; the carrier frequency detected in the healthy population (1/25) being higher than that reported in recent work (1/65) [Gravina et al, 2007]. This difference might arise from variations in the demographic characteristics of the control sam-ples.…”

Section: Discussionsupporting

confidence: 88%

GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population

Dalamon

Lotersztein

Béhèran³

et al. 2009

Audiol Neurotol

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Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss.

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Section: Discussionsupporting

confidence: 88%

GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population

Dalamon

Lotersztein

Béhèran³

et al. 2009

Audiol Neurotol

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“…It seems that geographic (and hence minor ethnic) differences do not play an important role in the distribution of the 35delG alleles in Hungary, because our randomized samples came mostly from the Southern-, and South-Eastern parts of the country. The incidence of the homozygous 35delG mutation is roughly 1/1000 to 1/2000, the carrier rates are in the range of 1-3% [9,12,23] and, as expected, we found no 35delG homozygous patient in the randomized group.…”

Section: Tablesupporting

confidence: 88%

Minimally invasive genetic screen for GJB2 related deafness using dried blood spots

Nagy

Csáki²,

Klem

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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“…28 Screening of 300 neonates in Argentina and in 712 normal-hearing subjects did not detect the A1555G mutation. 29 These studies have reported Chart 1. Clinical and audiometric data of the 20 index cases in the sample and the 7 affected family members (n=27) that underwent molecular analysis for the detection of the A1555G mitochondrial mutation.…”

Section: Discussionmentioning

confidence: 97%

“…12 Although the number of cases in both groups was different from the number in some published studies, and although the mutation was not found in both groups (HLG and control groups), we were able to confirm the results of studies that also did not find the mutation in non-Asian or Arab ethnic groups. [24][25][26][27][28][29] There is a single study in Brazil reporting the findings of five families with hearing loss cases in which the prevalence of the mutation was 2% (4 cases). Only one of these positive cases was associated with an assumed aminoglycoside exposure; no mutation was found in the control group composed by black, white or Asian (Japanese or Chinese) ethnic groups.…”

Section: Discussionmentioning

confidence: 99%

Rastreamento da mutação mitocondrial A1555G em pacientes com deficiência auditiva sensorioneural

Maniglia

Moreira

Silva

et al. 2008

Rev. Bras. Otorrinolaringol.

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A mutação mitocondrial A1555G é a principal alteração associada à surdez ocasionada pelo uso de aminoglicosídeos. OBJETIVO: Investigar a prevalência da mutação A1555G em pacientes com deficiência auditiva sensorioneural com e sem uso de antibióticos aminoglicosídeos. MATERIAL E MÉTODO: Estudo em amostras de 27 pacientes com surdez, como casos, e em 100 neonatos, com audição normal, como grupo controle. O DNA foi extraído de leucócitos de amostras de sangue e "primers" específicos foram utilizados para amplificar o gene do citocromo b e a região que abrange a mutação A1555G do DNA mitocondrial, usando as técnicas da Reação em Cadeia da Polimerase e do Polimorfismo no Comprimento de Fragmentos de Restrição. DESENHO CIENTÍFICO: Estudo de casos em corte transversal. RESULTADOS: A região do gene do citocromo b foi amplificada, sendo confirmada a presença do DNA mitocondrial em todas as 127 amostras do estudo. A mutação A1555G não foi identificada nos 27 pacientes com deficiência auditiva e no grupo controle (100 neonatos). CONCLUSÕES: Os resultados são concordantes com estudos que relatam que a mutação A1555G não é prevalente nas Américas. Há interesse na determinação da real prevalência dessa mutação e na investigação de outras mutações que possam ocasionar deficiência auditiva associada ou não ao uso de aminoglicosídeos na população brasileira.

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Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population

Cited by 29 publications

References 25 publications

<i>GJB2</i> and <i>GJB6</i> Genes: Molecular Study and Identification of Novel <i>GJB2</i> Mutations in the Hearing-Impaired Argentinean Population

<i>GJB2</i> and <i>GJB6</i> Genes: Molecular Study and Identification of Novel <i>GJB2</i> Mutations in the Hearing-Impaired Argentinean Population

Minimally invasive genetic screen for GJB2 related deafness using dried blood spots

Rastreamento da mutação mitocondrial A1555G em pacientes com deficiência auditiva sensorioneural

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