Frequencies of<i>GJB2</i>mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment

Kupka, Susan; Braun, Simone; Aberle, Susanne; Haack, Birgit; Ebauer, Margret; Zeißler, Ulrike; Zenner, Hans‐Peter; Blin, Nikolaus; Pfister, Markus

doi:10.1002/humu.9044

Cited by 35 publications

(19 citation statements)

References 23 publications

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“…It should be noted that the prevalence of GJB2 mutations in the deaf population varies in different publications between 17% and 48% [Estivill et al, 1998;Kelley et al, 1998;Denoyelle et al, 1999;Green et al, 1999;Abe et al, 2000;Wilcox et al, 2000;Janecke et al, 2002;Kupka et al, 2002;Wu et al, 2002]. These differences could be due to the ethnic origin of the studied population, to the molecular method or to the clinical selection criteria (DNA repository, clinical assessment and investigations before selection.…”

Section: Resultsmentioning

confidence: 94%

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Feldmann

Denoyelle

Chauvin

et al. 2004

American J of Med Genetics Pt A

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Recent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1. 32% of the patients had biallelic GJB2 mutations and 6% were a heterozygous for a GJB2 mutation and a GJB6 deletion. Biallelic GJB2 mutations and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children. Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss.

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Section: Resultsmentioning

confidence: 94%

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Feldmann

Denoyelle

Chauvin

et al. 2004

American J of Med Genetics Pt A

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“…The coding exon of GJB2 was sequenced using a capillary sequencer model CEQ 8000 (Beckman Coulter) (14). Sequences were compared with the reference sequence (GenBank no.…”

Section: Methodsmentioning

confidence: 99%

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 GJB2 gene has been found to account for approximately 50% of people with autosomal recessive nonsyndromic hearing loss in various ethnic populations [Morton, 1991;Marazita et al, 1993;Zelante et al, 1997;Kelley et al, 1998;Cohn et al, 1999;Kudo et al, 2001;Kupka et al, 2002;Snoeckx et al, 2005;del Castillo et al, 2005;Propst et al, 2006]. Identification of a GJB2 mutation enables parents to know the cause of a newborn's hearing loss soon after birth.…”

Section: Introductionmentioning

confidence: 98%

Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation

Steinberg

Bain

et al. 2007

American J of Med Genetics Pt A

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We report on the development of a Genetic Attitude Assessment Tool (GAAT) to measure parental attitudes in contemplating genetic testing for childhood hearing loss, and to examine the differences in assessments made before and after genetic counseling. The GAAT tool was administered to a convenient sample of 119 parents of children with bilateral sensorineural hearing loss. The respondents completed the survey either before (n = 77) or after (n = 42) genetic counseling. Exploratory Factor Analysis was applied to identify and quantify the underlying psychosocial structure. Our results showed the validated 54-item GAAT instrument contains six subscales: (1) "test intention," (2) "beliefs in non-genetic causes of hearing loss," (3) "deferral of decision to undergo genetic testing," (4) "appropriate use of genetic testing results," (5) "beliefs in the benefits," and (6) "concerns about stigma." The respondents who answered the survey after genetic counseling had higher "test intention" (P = 0.017) and endorsed to a greater extent "beliefs in the benefits" (P < 0.001). They believed to a lesser extent that childhood hearing loss was due to "non-genetic causes" (P < 0.001) and were less inclined to prefer "decision deferral" (P = 0.031). Respondents who themselves had a hearing loss expressed a significantly weaker belief in "non-genetic causes" of hearing loss (P < 0.0001). In conclusion the validated GAAT instrument is responsive to changes in parental attitudes after genetic counseling. The GAAT may be used to monitor parental attitudes serially, to further understand how parental attitudes change from pre genetic counseling, post genetic counseling, to post test result disclosure.

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Frequencies ofGJB2mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment

Cited by 35 publications

References 23 publications

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Coincidence of mutations in different connexin genes in Hungarian patients

Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation

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