A simple PCR test to detect the common 35delG mutation in the connexin 26 gene

Wilcox, Stephen; Osborn, Amelia H.; Dahl, Hans‐Henrik M.

doi:10.1016/s1084-8592(00)00014-x

Cited by 15 publications

(18 citation statements)

References 6 publications

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“…Our results showed that the frequency of the 35delG mutation (13.6%) among deaf Jordanians was similar to that for Palestinian population (14%) and lower than that for Lebanese population (94%) and to European Populations (60-80%) (Shahin et al 2002;Mustaapha et al 2001;Wilcox et al 2000). However, this mutation has not been detected in Omani, Japanese and Korean populations (Simsek et al 2001;Abe et al 2000;Park et al 2000).…”

Section: Resultssupporting

confidence: 59%

Prevalence of Connexin 26 Mutations in Patients from Jordan with Non Syndromic Hearing Loss

Mahasneh

Battah

2006

International Journal of Human Genetics

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Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form. The objectives of this study were to estimate the frequency of connexin 26 35delG and 167delT mutations in congenital deaf Jordanian population and to estimate the frequency of carriers among normal Jordanian population. PCR was used to amplify two regions of the exon 2 of connexin26 and PCR products were analyzed using Bsl I and Pst I analysis followed by gel electrophoresis. Homozygous 35delG was detected in fourteen out of 114 (12.3%) of the familial group, while in the sporadic group there was one individual out of 38 (2.6%). There were five individuals with a heterozygous mutations (35delG + /unknown), three of them were in the familial group (2.6%) and two in the sporadic group (5.3%). Among the normal group there was one carrier sample out of 95 (1.1%). The 167delT mutation was not detected in any of the deaf individuals, while it was detected in one individual from the normal group. The allele frequency for the 35delG mutation among the familial group was 13.6 % and 5.3 % for the sporadic group. The frequency of carriers among normal individuals was 1.1%. For the 167delT mutation the allele frequency was zero for the familial and sporadic groups.

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Section: Resultssupporting

confidence: 59%

Prevalence of Connexin 26 Mutations in Patients from Jordan with Non Syndromic Hearing Loss

Mahasneh

Battah

2006

International Journal of Human Genetics

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“…Genomic DNA was extracted from peripheral blood leucocytes [38,39], with mutations in GJB2, the deletions del(GJB6-13S1830) and del(GJB6-D13S1854) in GJB6, and the mitochondrial mutation A1555G in MTRNR1 investigated. All c.35delG/GJB2 mutations were first analyzed by PCR-RFLP using the BstNI enzyme [40,41]. The genotypes of all individuals with c.35delG mutations were confirmed by sequencing, and the mutations del(GJB6-D13S1830) and del(GJB6-D13S1854)…”

Section: Molecular Analysismentioning

confidence: 99%

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Manzoli

Abe‐Sandes

Bittles

et al. 2013

International Journal of Pediatric Otorhinolaryngology

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SUMMARYObjective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology.Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations previously associated with HI were initially analyzed: c.35delG in gene GJB2, del(GJB6-D13S1830) and del(GJB6-D13S1854) in gene GJB6, and A1555G in the mitochondrial gene MTRNR1, with additional mutations in GJB2 identified by sequencing the coding region of the gene.Results: Seven different mutations were present in GJB2 with mutations c.35delG and p.R75Q, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.6% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.R75Q. Conclusions:Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, and a high prevalence of community endogamy and consanguineous marriage.

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“…Presence of the common connexin 26 mutation, 35delG, was determined by a restriction-enzyme-based assay [Wilcox et al, 2000]. The presence of other connexin 26 mutations were assessed by denaturing high-performance liquid chromatography [Lin et al, 2001].…”

Section: Genetic Analysesmentioning

confidence: 99%

Language and Speech Perception Outcomes in Hearing-Impaired Children with and without Connexin 26 Mutations

Dahl

Wake²,

Sarant³

et al. 2003

Audiol Neurotol

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This study addressed the question of whether a hearing loss caused by mutations in the connexin 26 gene had a significant effect on language and speech perception outcomes in children using cochlear implants or hearing aids. The families of children who had participated in two previous studies of language development were invited to participate in this genetic study. From the 52 children whose families agreed to participate, 15 children with connexin 26 mutations in both chromosomes were identified. After taking into account other factors which are known to affect language development and speech perception in children with impaired hearing, no significant differences were found between the 15 children where connexin 26 was known to be the cause of deafness and the other 37 children in the study.

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A simple PCR test to detect the common 35delG mutation in the connexin 26 gene

Cited by 15 publications

References 6 publications

Prevalence of Connexin 26 Mutations in Patients from Jordan with Non Syndromic Hearing Loss

Prevalence of Connexin 26 Mutations in Patients from Jordan with Non Syndromic Hearing Loss

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil

Language and Speech Perception Outcomes in Hearing-Impaired Children with and without Connexin 26 Mutations

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