Prevalence of the 35delG mutation in deaf South Brazilian infants submitted to cochlear implantation

Motta, Luiz Henrique Campos da; Félix, Têmis Maria; Souza, Liliane Todeschini de; Lavinsky‐Wolff, Michelle; Costa-Motta, Fabiana Moura; Faria, Mauren Rocha de; Lavinsky, Luíz

doi:10.1016/j.ijporl.2011.11.023

Cited by 12 publications

(8 citation statements)

References 29 publications

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“…Several studies investigating the genetic basis of HI have, however, demonstrated the presence of a range of mostly recessive mutations [7][8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Manzoli

Abe‐Sandes

Bittles

et al. 2013

International Journal of Pediatric Otorhinolaryngology

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SUMMARYObjective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology.Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations previously associated with HI were initially analyzed: c.35delG in gene GJB2, del(GJB6-D13S1830) and del(GJB6-D13S1854) in gene GJB6, and A1555G in the mitochondrial gene MTRNR1, with additional mutations in GJB2 identified by sequencing the coding region of the gene.Results: Seven different mutations were present in GJB2 with mutations c.35delG and p.R75Q, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.6% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.R75Q. Conclusions:Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, and a high prevalence of community endogamy and consanguineous marriage.

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“…Several studies investigating the genetic basis of HI have, however, demonstrated the presence of a range of mostly recessive mutations [7][8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Manzoli

Abe‐Sandes

Bittles

et al. 2013

International Journal of Pediatric Otorhinolaryngology

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“…The other issue emerging is the small number of tested subjects in several published works, which could affect the reliability of statistical outcomes [11,16]. In some cases, even the recessive heterozygotes have been placed in the 'connexin group,' although their deafness could not be attributed to the detected genotype [17].…”

Section: Discussionmentioning

confidence: 99%

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

Varga¹,

Kabátová²,

Masindova³

et al. 2014

Acta Oto-Laryngologica

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Statistically significant differences (p < 0.05) for tone audiometry were obtained, particularly after the first and third year post implantation, between 'connexin' and 'known' etiology groups. In speech audiometry, the monosyllabic word test, and CAP, the connexin group of children scored significantly better than the two control groups only after 3 and 5 years. Although the rate of excellent performers was higher in the connexin group, poor results were achieved in all groups in similar proportion.

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“…Indeed, the auditory performance of the 2 implantees demonstrates that this theoretical expectation could be clinically validated and postimplantation auditory test results showed a clear benefit of speech recognition in quiet and noise. To date, only very few reports on the outcome of cochlear implantation in patients with defined types of hereditary hearing loss have been published [da Motta et al, 2012;Henricson et al, 2012;Lai et al, 2012;Mesolella et al, 2004;Nishizaki et al, 1999;Sanggaard et al, 2008;Yamaguchi et al, 1997]. All of these describe a favourable outcome after cochlear implantation; however, it remains unclear whether this demonstrates a generally good response of this therapy in hereditary hearing loss or rather a publication bias.…”

Section: Discussionmentioning

confidence: 99%

“…Especially data on the differential prognosis of speech perception after cochlear implantation would be beneficial when counselling affected patients. However, there are just very few studies published which report the clinical details of the outcome after cochlear implantation in patients with different types of hereditary hearing loss thereby limiting the prospects of a phenotype-driven patient management [da Motta et al, 2012;Eppsteiner et al, 2012;Henricson et al, 2012;Lai et al, 2012;Mesolella et al, 2004;Nishizaki et al, 1999;Yamaguchi et al, 1997]. Besides 1 affected patient in a 6-generation MYO6 family who received a cochlear implant [Sanggaard et al, 2008], the literature lacks detailed data on the potential outcome of DFNA22 patients after cochlear implantation.…”

Section: Introductionmentioning

confidence: 99%

A Novel <b><i>MYO6</i></b> Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

Volk¹,

Lang‐Roth²,

Yigit³

et al. 2013

Audiol Neurotol

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Mutations in MYO6 encoding an atypical myosin motor protein important for inner ear hair cell function have been associated with autosomal recessive (DFNB37) and autosomal dominant (DFNA22) types of hearing loss in a few families worldwide. After genome-wide linkage analysis, we identified a novel MYO6 mutation at the splice acceptor site of exon 7 (c.554-1G>A) in an extended German family with autosomal dominant postlingual non-syndromic hearing impairment. Analysis of blood-derived cDNA revealed different aberrantly spliced mRNAs caused by the mutation, which are predicted to severely interfere with protein function. Two of the family members underwent cochlear implantation at ages 53 and 65. Here, we present detailed clinical data of this family which suggest a favourable outcome of cochlear implantation in hearing-impaired individuals with a MYO6 mutation.

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Prevalence of the 35delG mutation in deaf South Brazilian infants submitted to cochlear implantation

Cited by 12 publications

References 29 publications

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

A Novel <b><i>MYO6</i></b> Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

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