Mutationsanalyse des Connexin26-Gens bei sporadischen Fällen mittel- bis hochgradiger Schwerhörigkeit

Kupka, Susan; Mirghomizadeh, Farhad; Haug, Tor; Braun, Simone; Leistenschneider, Peter; Schmitz-Salue, Christoph; Arold, R.; Blin, Nikolaus; Zenner, Hans‐Peter; Pfister, Markus

doi:10.1007/s001060050637

Cited by 11 publications

(7 citation statements)

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“…The prevalence of 22% Cx26 mutations in German patients with severe to profound hearing loss found in the current study is consistent with the results of previous studies revealing a prevalence ranging from 10% to 37% for Cx26 mutations in different populations (Estivill et al, 1998;Lench et al, 1998;Murgia et al, 1999). Recently, Kupka reported a frequency of only 8% 30delG mutations in 164 patients with bilateral hearing impairment from Germany (Kupka et al, 2000). There are different explanations for this discrepancy.…”

Section: Discussionmentioning

confidence: 99%

“…There are different explanations for this discrepancy. First, our study was performed on patients with severe to profound hearing impairment or deafness, whereas Kupka investigated patients with mild to profound hearing impairment (Kupka et al, 2000). Although Cx26 mutations may lead to variable degree of hearing loss, some studies have documented a higher prevalence for Cx26 mutations among patients with severe to profound hearing impairment Mueller et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

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Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

et al. 2001

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Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible for hereditary hearing loss. We have studied 134 patients with severe to profound hearing loss or deafness and 13 patients with mild to moderate nonsyndromic sensorineural hearing loss in order to evaluate the prevalence of connexin26 and connexin30 mutations in Germany. Mutations in the connexin26 gene were found in 30 patients (22%) with profound to severe hearing impairment whereas only one novel single nucleotide polymorphism (396G-->A) in the connexin30 gene was detected. Among the 13 patients with mild to moderate hearing loss neither mutations in the connexin26 nor in the connexin30 gene could be detected. These results demonstrate that mutations in the connexin26 gene are also a frequent cause of hereditary non-syndromic hearing loss in Germany. Therefore a screening of mutations in the connexin26 gene should be performed in every case of non-syndromic hearing loss of unknown origin.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

et al. 2001

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“…Bei sporadischen Fällen liegt nach Literaturangaben der Anteil der 35delG-Mutation zwischen 5 und 35%,je nach Patientenkollektiv.Bei deutschen Patienten wurde die genannte Mutation beispielsweise mit ca.8% in sporadischen Fällen nachgewiesen [10].…”

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Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene

Tóth

Kupka

Sziklai

et al. 2003

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“…Kupka et al [48] haben in Deutschland bei 164 sporadischen mittel-bis hochgradigen non-syndromalen Hörstörungen in 8% eine 35delG Mutation aufgezeigt. Gasparini et al [28] fanden bei der Untersuchung von 200 Kontroll-DNA aus Deutschland 4 35delG-Heterozygote, dies entspricht einer Heterozygotenfrequenz von 2% in der Gesamtbevölkerung.…”

Section: "Mutationen Im Connexin26-gen Sind Für Einen Wesentlichen Anunclassified

Angeborene Erkrankungen des Hörvermögens bei Kindern

Gross

Lange

Spormann-Lagodzinski

2001

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Molecular genetic tests enable a differentiated view of patho-physiological correlation of sensori-neural hearing impairment. On the basis of 4791 records of the German Central Registry on Childhood Hearing Loss (Deutsches Zentralregister für kindliche Hörstörungen (DZH)) it was shown that 35% of all permanent hearing impairment in Germany is caused genetically and 20% are acquired. The proportion of indistinct etiology remains at 45%. The number of children who have a hearing impairment by birth is also vague. It has to be expected that approximately 5% of these children develop a hearing impairment afterwards albeit its genetic determination. In 4791 cases a syndromal phenotype was assumed in 8.9%. Practical advice is given for clinical routine diagnostics with pragmatic suggestions and some distinct syndromes are described. Hitherto identified deafness genes reveal their role in pathological auditory function. Future diagnostic and therapeutic strategies are outlined on the basis of molecular genetic methods.

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Mutationsanalyse des Connexin26-Gens bei sporadischen Fällen mittel- bis hochgradiger Schwerhörigkeit

Cited by 11 publications

References 20 publications

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene

Angeborene Erkrankungen des Hörvermögens bei Kindern

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