Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss

@article{Erbe2004Connexin2A,
  title={Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss},
  author={Christy B. Erbe and K. C. Harris and Christina L. Runge-Samuelson and Valerie A. Flanary and P. Ashley Wackym},
  journal={The Laryngoscope},
  year={2004},
  volume={114}
}
Objectives/Hypothesis Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing loss in Caucasians. The Cx26 coding region of 68 children with nonsyndromic sensorineural hearing loss was sequenced to determine the frequency and type of Cx26 mutations in this population. Screening was also performed for a common connexin 30 (Cx30) or gap junction beta 6 mutation (del [GJB6‐D13S1830]). Children also underwent… Expand
Connexin 26 mutations in autosomal recessive deafness disorders: A review
TLDR
The clinically underestimated prevalence of GJB2 gene mutations is highlighted, the influential role of ethnic diversity in mutation frequency is explored, and a framework for hearing specialists in considering the differential diagnosis of nonsyndromic hearing loss is provided. Expand
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
TLDR
It is indicated that GJB2 mutations account for about 30% of Turkish patients with ARNSHL, and four already described mutations, W24X, 310del14, delE120 and R184P and two novel mutations were identified. Expand
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort
TLDR
Sixteen different genotypes causing deafness in more than 27% of patients with either biallelic mutations or digenic inheritance GJB2/GJB6 were identified, with the most frequent mutations were 35delG, M34T, L90P, and R184P. Expand
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
TLDR
A deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene, TMEM43, mainly expressed in GLSs is presented, which is characterized by inability to discriminate speech despite preserved sensitivity to sound. Expand
Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.
TLDR
The 35delG mutation was determined as the most frequently shown mutation that leads to congenital hearing loss as in previous studies from Turkey. Expand
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
TLDR
The overall frequency of GJB2/GJB6 mutations in the present sample is in agreement with other Caucasian populations, and reinforces the importance of the study of GJD2/ GJB6 genes in diagnosis to provide early treatment and genetic counselling. Expand
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.
  • K. Lee, S. Choi, +5 authors S. Lee
  • Biology, Medicine
  • International journal of pediatric otorhinolaryngology
  • 2008
TLDR
The results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population. Expand
Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.
TLDR
Electrocardiographic parameters (PR interval, QRS complex, and QTc interval) in patients with hearing loss who were tested for mutations in GJB2 and GJB6 were compared to investigate whether these mutations affect electrical activity of the heart. Expand
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