The 342-kb deletion in<i>GJB6</i>is not present in patients with non-syndromic hearing loss from Austria

Günther, Barbara; Steiner, Andrea; Nekahm-Heis, Doris; Albegger, K; Zorowka, Patrick; Utermann, Gerd; Janecke, Andreas R.

doi:10.1002/humu.9167

Cited by 34 publications

(28 citation statements)

References 12 publications

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“…Our result is consistent with the results of Liu et al (2002), who did not detect this mutation in a sample from the Chinese population [37]. Since a number of other studies also found a low frequency or absence of this mutation in different populations, including Austrian, Russian, and Moroccan [23,[38][39][40][41], this deletion may be restricted to certain populations [23].…”

Section: Discussionsupporting

confidence: 92%

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Lee

Choi

Bae

et al. 2008

International Journal of Pediatric Otorhinolaryngology

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Objective-Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population.Methods-We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes in twenty-two hearing loss patients. We also sequenced the SLC26A4 gene in seven patients with inner ear malformations, including enlarged vestibular aqueduct (EVA) revealed by computer tomography.Results-Coding sequence mutations in GJB2 were identified in 13.6% of the patients screened. Two different mutations, 235delC and T86R were found in three unrelated patients. The 235delC was the most prevalent mutation with an allele frequency of 6.9% in our patient group. No mutations, including 342 kb deletion, were found in GJB6 gene. Three different variants of SLC26A4 were identified in the EVA patients, including one novel mutation. Four EVA patients carried two mutant alleles of SLC26A4, and at least one allele in all patients was the H723R mutation, which accounted for 75% of all mutant alleles.Conclusions-Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population. Further studies may be able to identify other common variants that account for a significant fraction of hearing loss in the Korean population.

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Section: Discussionsupporting

confidence: 92%

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Lee

Choi

Bae

et al. 2008

International Journal of Pediatric Otorhinolaryngology

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“…We did not detect any deletion among Iranian patients. Absence of this mutation among studied patients is similar to other studies from Iran and other countries (Gunther et al 2003;Kalay et al 2005;Esmaeili et al 2007). This result supports the view that del(GJB6-D13S1830) mutation is associated with only certain populations.…”

Section: Gjb2 Mutations and Deafness In Iransupporting

confidence: 90%

A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients

Hamid

Karimipoor

Chaleshtori

et al. 2009

J Genet

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“…The frequency of the 342-kb deletion [Δ(GJB6-D13S1830)] affecting GJB6 varies tremendously between different populations. In our study, as well as in other studies of Polish and Austrian patients, the deletion was observed infrequently (36,37). In contrast, a multicenter study in nine countries revealed high mutation frequencies with the highest ones (32-72%) observed in France, Spain, Israel, and the UK (33).…”

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confidence: 70%

Coincidence of mutations in different connexin genes in Hungarian patients

et al. 2007

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Abstract. Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. Therefore, we screened 47 Hungarian GJB2-heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites. Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. One out of these 11 patients showed homozygous -3170G>A genotype in combination with p.R127H. Next to the GJB2 mutations we noted 2 cases of deletion in GJB6 [Δ(GJB6-D13S1830)] and 3 (2 new and 1 described) base substitutions in GJB3 [c. 357C>T, c.798C>T and c.94C>T (p.R32W)] which are unlikely disease-causing. Our results suggest the importance of routine screening for the rather frequent -3170G>A mutation (in addition to c.35delG) in patients with hearing impairment.

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The 342-kb deletion inGJB6is not present in patients with non-syndromic hearing loss from Austria

Cited by 34 publications

References 12 publications

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients

Coincidence of mutations in different connexin genes in Hungarian patients

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