Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
- P. M. Kelley, D. Harris, W. Kimberling
- Biology, MedicineAmerican Journal of Human Genetics
- 1 April 1998
Analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness indicates that 101T-->C is not sufficient to cause hearing loss.
GJB2 mutations and degree of hearing loss: a multicenter study.
- R. Snoeckx, P. Huygen, G. Van Camp
- Medicine, BiologyAmerican Journal of Human Genetics
- 1 December 2005
The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Prevalent connexin 26 gene (GJB2) mutations in Japanese
- S. Abe, S. Usami, H. Shinkawa, P. M. Kelley, W. Kimberling
- BiologyJournal of Medical Genetics
- 1 January 2000
It was confirmed that GJB2mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent.
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
It is estimated that about 1 in 500 children are born with a significant hearing loss, and more than 12 recessive genes have been identified primarily from large consanguineous pedigrees, which represents a major aetiologic factor in childhood hearing loss.
Differential induction of heat shock, SOS, and oxidation stress regulons and accumulation of nucleotides in Escherichia coli
The pattern of accumulation of adenylylated nucleotides during these treatments was inconsistent with a simple role for these nucleotide as alarmones sufficient for triggering the heat shock response, but was consistent with a role in the oxyR-mediated response.
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy.
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
Hearing loss varied from mild-moderate to profound, even within the group of families homozygous for the common mutation 35delG, suggesting that other factors modify the phenotypic effects of mutations in Cx26.
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
The results indicate that at least two and possibly three genes responsible for hearing impairment are located close together on chromosome 1p34 and suggest that KCNQ4 mutations may be a relatively frequent cause of autosomal dominant hearing loss.
Tietz syndrome (hypopigmentation/deafness) caused by mutation ofMITF
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete…
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.
- S. Abe, P. M. Kelley, W. Kimberling, S. Usami
- BiologyAmerican journal of medical genetics
- 1 November 2001
The present findings indicate that GJB2 mutations may sometimes be an aggravating factor, in addition to aminoglycoside antibiotics, in the phenotypic expression of the non-syndromic hearing loss associated with the 1555A-->G mitochondrial mutation.