scholarly journals A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

1998 ◽  
Vol 35 (2) ◽  
pp. 151-152 ◽  
Author(s):  
N J Lench ◽  
A F Markham ◽  
R F Mueller ◽  
D P Kelsell ◽  
R J Smith ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Gap Junction ◽  
Autosomal Recessive ◽  
Protein Gene ◽  
Sensorineural Hearing ◽  
Connexin 26 ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Moroccan Family

scholarly journals The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

2015 ◽  
Vol 11 (2) ◽  
pp. 118-121 ◽  
Author(s):  
Sevcan Tug Bozdogan ◽  
Gokhan Kuran ◽  
Ozge Ozalp Yüregir ◽  
Huseyin Aslan ◽  
Suheyl Haytoglu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Gap Junction ◽  
Sensorineural Hearing ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Beta 2 ◽  
Gjb2 Mutations

Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss

2012 ◽  
Vol 126 (8) ◽  
pp. 763-769 ◽  
Author(s):  
S Battelino ◽  
B Repič Lampret ◽  
M Žargi ◽  
K Trebušak Podkrajšek
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Gap Junction ◽  
Late Onset ◽  
Gene Mutations ◽  
Sensorineural Hearing ◽  
Progressive Hearing Loss ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Beta 2

AbstractObjective:Mutations in the gap junction protein beta-2 gene (‘GJB2’) are known to be responsible for mild to profound congenital and late-onset hearing loss. This study aimed to investigate the molecular basis of progressive hearing loss compared with non-progressive hearing loss.Methods:Following clinical otorhinolaryngological evaluation, a genetic analysis was performed in a cohort of 72 patients with progressive sensorineural hearing loss.Results:Pathological genotypes were established in 16 patients (22.2 per cent). Six different gap junction protein beta-2 gene mutations were detected in 15 patients, with the c.35delG mutation responsible for 56 per cent of the mutated alleles. A novel gap junction protein beta-6 gene (‘GJB6’) mutation (p.Met203Val) was observed in one patient with mild progressive hearing loss.Conclusion:Analyses of gap junction protein beta-2 and -6 genes revealed that similar pathological genotypes, occurring with similar frequencies, were responsible for progressive hearing loss, compared with reported genotypes for non-progressive hearing loss patients. Thus, genotype cannot be used to differentiate non-progressive from progressive hearing loss cases; in this study, patients both with and without an established pathological genotype had a similar clinical course.

Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography

2008 ◽  
Vol 122 (12) ◽  
pp. 1284-1288 ◽  
Author(s):  
Z Siti Aishah ◽  
M D Mohd Khairi ◽  
A R Normastura ◽  
Z Zafarina ◽  
B A Zilfalil
Keyword(s):  
Hearing Loss ◽  
High Performance Liquid Chromatography ◽  
Gap Junction ◽  
High Performance ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Junction Protein ◽  
Syndromic Hearing Loss ◽  
Gap Junction Protein ◽  
Beta 2

AbstractObjective:To determine the frequency and type of gap junction protein beta-2 gene mutations in Malay patients with autosomal recessive, non-syndromic hearing loss.Methods:A total of 33 Malay patients with autosomal recessive, non-syndromic hearing loss were screened for mutations in the Cx26 coding region. Deoxyribonucleic acid was extracted from buccal swab samples and subjected to polymerase chain reaction. Slow-reannealing was performed, followed by screening using denaturing high performance liquid chromatography.Results:Eight of the samples (24.2 per cent) showed heterozygous peaks, and further sequencing of these samples revealed four patients (50.0 per cent) with the W24X mutation, two (25.0 per cent) with the V37I mutation and another two (25.0 per cent) with the G4D mutation.Conclusions:Analysis of buccal swab samples by denaturing high performance liquid chromatography is noninvasive and suitable for rapid and reliable screening of gap junction protein beta-2 gene mutations in patients with autosomal recessive, non-syndromic hearing loss. Malay patients with autosomal recessive, non-syndromic hearing loss have different kinds of gap junction protein beta-2 gene mutations which are rarely found in other populations.

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

2006 ◽  
Vol 140A (22) ◽  
pp. 2394-2400 ◽  
Author(s):  
C. Huculak ◽  
H. Bruyere ◽  
T. N. Nelson ◽  
F. K. Kozak ◽  
S. Langlois
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Connexin 26

scholarly journals Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

2007 ◽  
Vol 44 (7) ◽  
pp. e85-e85 ◽  
Author(s):  
S. P. G Ponnam ◽  
K. Ramesha ◽  
S. Tejwani ◽  
B. Ramamurthy ◽  
C. Kannabiran
Keyword(s):  
Gap Junction ◽  
Autosomal Recessive ◽  
Junction Protein ◽  
Gap Junction Protein

Molekulargenetische Aspekte in der Otorhinolaryngologie

2003 ◽  
Vol 60 (8) ◽  
pp. 477-480
Author(s):  
N. Gürtler
Keyword(s):  
Gap Junction ◽  
Connexin 26 ◽  
Sich Eine ◽  
Klinische Anwendung ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Klinische Versuche

In der HNO-Heilkunde hat die Molekulargenetik in den letzten zehn Jahren vor allem in der Otologie und bei den Kopf-Hals-Tumoren einen enormen Aufschwung erlebt. Die ersten Resultate dieser Grundlagenforschung beginnen nun, im klinischen Alltag Fuß zu fassen. Auf dem Gebiet der otologischen Forschung wurde dank der Molekulargenetik das Verständnis der auditiven Funktion wesentlich erweitert. Die hereditäre Schwerhörigkeit, welche die syndromale und nicht-syndromale Form unterscheidet, wird mehr und mehr entschlüsselt. So sind mittlerweile viele den verschiedenen Syndromen zugrunde liegende Gendefekte identifziert. Dadurch kann die Diagnostik verbessert und können die betroffenen Patienten besser beraten werden. Der Aufwand dieser Analysen zwingt zur restriktiven Abklärung, sodass bis heute allein die häufigste syndromale Form, das Pendred-Syndrom, in unserer Klinik routinemäßig molekulargenetisch untersucht wird. Bei der nicht-syndromalen Schwerhörigkeit zeigt sich eine Vielfalt von Genen und Mutationen. In zwei Fällen wird in der Klinik die Indikation zur Abklärung empfohlen: einerseits die Analyse von Gap-Junction-Protein Beta2, welche das Protein Connexin 26 (Cx26) kodiert, bei Patienten mit kongenitaler nicht-syndromaler Schwerhörigkeit, da Cx26 den häufigsten Gendefekt in dieser Gruppe darstellt mit einer hohen Prävalenz von etwa 20% in der Schweiz; andererseits die Mutationssuche im Wolfram-Syndrom-Gen-1 bei Familien, deren Mitglieder eine Tieftonschwerhörigkeit aufweisen, da dieses Gen bei diesem Typ des Hörverlustes die häufigste Ursache zu sein scheint. Eine Gentherapie zur Behandlung der Schwerhörigkeit ist noch nicht in Sicht. Bei den Kopf-Hals-Tumoren hat die Molekulargenetik ebenfalls viel zum Verständnis der Tumorentstehung beigetragen. Die klinische Anwendung konzentriert sich darauf, ein Risikoprofil für die individuelle Tumorentwicklung erstellen zu können, die Prognose besser abzuschätzen und neue Therapiemodalitäten auf genetischer Basis zu entwickeln. Richtlinien zur molekulargenetischen Tumorabklärung können noch keine abgegeben werden, da die Studienresultate nicht einheitlich sind. Auf dem Gebiet der Gentherapie hingegen sind bereits klinische Versuche im Gang.

scholarly journals Halláscsökkenést okozó etiológiai tényezők cochlearis implantáción átesett gyermekekben

2019 ◽  
Vol 160 (21) ◽  
pp. 822-828
Author(s):  
Nóra Kecskeméti ◽  
Anita Gáborján ◽  
Magdolna Szőnyi ◽  
Marianna Küstel ◽  
Ildikó Baranyi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Speech Development ◽  
Sensorineural Hearing ◽  
Diagnostic Process ◽  
Sufficient Information ◽  
Hearing Rehabilitation ◽  
Junction Protein ◽  
Newborn Hearing

Abstract: Introduction: Congenital sensorineural hearing loss is one of the most common sensory defects affecting 1–3 children per 1000 newborns. There are a lot of causes which result in congenital hearing loss, the most common is the genetic origin, but infection, cochlear malformation or other acquired causes can be reasons as well. Aim: The aim of this study was to establish the etiological factors of congenital profound sensorineural hearing loss in children who underwent cochlear implantation. Results: Our results show that the origin of the hearing loss was discovered in 62.9% of our patients. The most common etiological factor was the c.35delG mutation of the gap junction protein β-2 gene, the allele frequency was 38.7% in our cohort. Infection constituted to 10.1%, and meningitis and cytomegalovirus infection were the second most common cause. 79.9% of our patients received sufficient hearing rehabilitation before the end of the speech development’s period (6 years old), but 11.2% of our cases were still diagnosed late. Conclusions: Based on our data we can state that genetic evaluation is crucial in the diagnostic process of congenital profound sensorineural hearing loss. Sufficient hearing rehabilitation affects the whole life of the child, and by late cochlear implantation the speech development falls behind. We can decrease the ratio of the late implantation with the new protocol of newborn hearing screening, and with sufficient information provided to the colleagues, so the children may be referred to the proper center for rehabilitation without delay. Orv Hetil. 2019; 160(21): 822–828.

scholarly journals DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter

1999 ◽  
Vol 7 (2) ◽  
pp. 243-246 ◽  
Author(s):  
Leanne Moynihan ◽  
Mark Houseman ◽  
Valerie Newton ◽  
Robert Mueller ◽  
Nicholas Lench
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Recessive ◽  
Sensorineural Hearing
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