Prevalence of Deafness‐Associated Connexin‐26 (<i>GJB2</i>) and Connexin‐30 (<i>GJB6</i>) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Amorini, Maria; Romeo, Placido; Bruno, Rocco; Galletti, Francesco; Bella, Chiara Di; Longo, Patrizia; Briuglia, Silvana; Salpietro, Carmelo; Rigoli, Luciana

doi:10.1111/ahg.12120

Cited by 17 publications

(12 citation statements)

References 48 publications

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“…First described in 1997, GJB2 encodes connexin 26, a gap junction protein critical to the potassium-ion channels of the cochlea. 7,14,29 These data suggest that the mutation of the GJB2 gene does not damage the peripheral saccular receptor or the function of the inferior vestibular nerve. More studies on vestibular function in congenital deafness caused by intrauterine infections (cytomegalovirus, rubella and toxoplasmosis) would be useful.…”

Section: Discussionmentioning

confidence: 69%

“…A previously reported analysis of 310 adult cases included meningitis, viruses, vascular diseases, idiopathic sudden sensorineural HL, chronic suppurative otitis media, trauma, ototoxic medications, and unknown etiology as causes of acquired MPSHL. [5][6][7][8][9][10][11] We proposed the present study to increase the current knowledge about the etiopathogenesis of sensorineural HL, which is often of unknown nature.…”

Section: Introductionmentioning

confidence: 99%

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Application of Cervical Vestibular-Evoked Myogenic Potentials in Adults with Moderate to Profound Sensorineural Hearing Loss: A Preliminary Study

Ciodaro

Freni

Alberti

et al. 2020

Int Arch Otorhinolaryngol

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Introduction The cochlea and the vestibular receptors are closely related in terms of anatomy and phylogeny. Patients with moderate to profound sensorineural hearing loss (MPSHL) should have their vestibular organ functions tested. Objective To evaluate the incidence of vestibular abnormalities in patients with MPSHL and to study the correlation between the etiology of hearing loss (HL) and a possible damage to the labyrinth. Methods A case-control retrospective study was performed. In the case group, 20 adults with MPSHL of known etiology were included. The control group was composed of 15 adults with normal hearing. The case group was divided into 4 subgroups based on the etiology (bacterial meningitis, virus, vascular disease, congenital). Cervical vestibular-evoked myogenic potentials (cVEMPs) were used to rate the saccular function and lower vestibular nerve. Results The study was performed in 70 ears, and it highlighted the presence of early biphasic P1-N1 complex in 29 (71.5%) out of 40 ears in the study group, and in all of the 30 ears in the control group (p = 0.001). Regarding the presence or absence of cVEMPs among the four subgroups of patients with MPSHL, the data were statistically significant (p < 0.001). The comparison between the latencies and amplitude of P1-N1 in case and control groups from other studies and in the four subgroups of cases in the present study did not detect statistically significant differences. Conclusion The present study demonstrates that patients with MPSHL have a high incidence of damage to the labyrinthine organs, and it increases the current knowledge about the etiopathogenesis of sensorineural HL, which is often of unknown nature.

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Section: Discussionmentioning

confidence: 69%

Section: Introductionmentioning

confidence: 99%

Application of Cervical Vestibular-Evoked Myogenic Potentials in Adults with Moderate to Profound Sensorineural Hearing Loss: A Preliminary Study

Ciodaro

Freni

Alberti

et al. 2020

Int Arch Otorhinolaryngol

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“…The incidence of mutations in the connexin 26 gene in Europe varies. According to the literature, it is the highest in the south, in the Mediterranean countries, and the lowest in the north [20,21]. Polish studies report that the reason for congenital deafness is genetically conditioned deafness (associated with the GJB2 mutation) in 40% of cases [22,23].…”

Section: Discussionmentioning

confidence: 99%

GJB2 sequencing in deaf and profound sensorineural hearing loss children

2016

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“…Concerning Cx26, more than 80 mutations have been identified in the Caucasian population. The most common are 35delG, M34T (T/C substitution), and 167delT and all of them induce the alteration of the sequence and the structure of the protein . The Cx30 mutation is referred as D13S1830 and consists of a 243 kb deletion, which is responsible for the protein disruption .…”

Section: The Primer Sequences Utilized For the Setup Of Cx26 And Cx26mentioning

confidence: 99%

“…The most common are 35delG, M34T (T/C substitution), and 167delT and all of them induce the alteration of the sequence and the structure of the protein . The Cx30 mutation is referred as D13S1830 and consists of a 243 kb deletion, which is responsible for the protein disruption . Given the frequency distribution of the four mutations in the Caucasian population and their pathogenic connection with NSHL, the development of accurate, rapid, and “low‐cost” molecular assays should be strongly encouraged.…”

Section: The Primer Sequences Utilized For the Setup Of Cx26 And Cx26mentioning

confidence: 99%

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations

et al. 2016

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The hypoacusia can be classified in two clinical forms: Syndromic (SHL) and Nonsyndromic (NSHL). In particular, the NSHL describes the 70-80% of hypoacusia cases and it is mainly due to genetic factors, which are causative of the deafness at the birth. The genetic hypoacusia presents different inheritance patterns: autosomal dominant (20%), autosomal recessive (80%), X-linked (1%), and mitochondrial (1%), respectively. To date, about 35 deafness-causative genes have been identified and most of them codify for connexin transmembrane proteins. Approximately 1:2500 children with NSHL carries mutations in the GJB2 and GJB6 (13q12) genes, which code for connexin 26 (Cx26) and connexin 30 (Cx30), respectively. In the Caucasian population, the most common mutations are 35delG, M34T and 167delT, and D13S1830. Given the frequency distribution of the four mutations in the Caucasian population and the pathogenic connection with NSHL, the development of accurate, rapid, and "low-cost" molecular assays should be strongly encouraged. To this purpose, we set up two different molecular assays (namely the Cx26 and Cx26-30 molecular assays) for the fast and inexpensive detection of 35delG, M34T, 167delT, and D13S1830 mutations. Both the molecular approaches showed to be accurate, sensitive, reproducible, and "low-cost" alternatives for the proper evaluation of the GJB2 and GJB6 genes, which are causative of NSHL. In conclusion, the Cx26 and Cx26-30 molecular assays can be applied to individual, preconception, prenatal, or postnatal screening for the causative-mutations of NSHL.

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Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Cited by 17 publications

References 48 publications

Application of Cervical Vestibular-Evoked Myogenic Potentials in Adults with Moderate to Profound Sensorineural Hearing Loss: A Preliminary Study

Application of Cervical Vestibular-Evoked Myogenic Potentials in Adults with Moderate to Profound Sensorineural Hearing Loss: A Preliminary Study

GJB2 sequencing in deaf and profound sensorineural hearing loss children

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations

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