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In addition to GJB2, >80 mutations in MYO7A (OMIM: 276903) encoding myosin VIIA have also been linked with syndromic and NSHL.11 MYO7A co-ordinates between the transduction channel and stereocilia membrane and interact with hair cells by associating with cadherin molecules.
The c.35delG variant in GJB2 has been reported previously in association with autosomal recessive nonsyndromic hearing loss when present in the homozygous state or when in trans with another pathogenic variant .
Prescreening of the 124 sites in the GJB2, 12S rRNA, and SLC26A4 genes was performed in the probands of eighteen Uyghur families.
And a higher frequency of 5.71% was reported in an Iranian population preexcluding GJB2 mutations .
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
In our study, homozygous c.35delG mutations were determined in the GJB2 gene in subjects who had hearing loss in four families, and heterozygous c.457G>A (p.V153I) mutations were found in subjects who had hearing loss in one family.
35delG is the most frequent mutation reported in the GJB2 gene .
Schild et al., "A novel dominant and a de novo mutation in the GJB2 gene (Connexin-26) cause keratitis-ichthyosis-deafness syndrome: Implication for cochlear implantation," Otology and Neurotology, vol.
Three prevalent deafness-associated genes, GJB2, SLC26A4, and mtDNA12SrRNA, were first screened for mutations in all participating cases and controls.
Does Universal Newborn Hearing Screening Identify All Children with GJB2 (Connexin 26) Deafness?
(4.) Bauer P, Geers A, Brenner C, Moog J, Smith RJ: The effect of GJB2 Allele Variants on Performance after Cochlear Implantation.
 Mutations in gap junction (GJ) genes, specifically GJB2 (connexin 26), have been shown to be the major contributors to deafness globally.
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- Gjalski, Ksavjer Šandor
- Gjalski, Ksavjer Sandor