Mitochondrial mutation associated with nonsyndromic deafness

Fischel‐Ghodsian, Nathan; Prezant, Toni R.; Fournier, Patricia; Stewart, Ian; Maw, Marion A.

doi:10.1016/0196-0709(95)90078-0

Cited by 121 publications

(88 citation statements)

References 23 publications

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“…This discrepancy seems to be due to a difference in mitochondrial haplotype. In the New Zealand pedigree, three additional sequence changes in complex I protein genes were also detected [43], but similar changes were not found in the Scottish pedigree [86]. The A7445G mutation is a silent change of both the last nucleotide of the COI gene on the heavy strand and the nucleotide immediately adjacent to the 3′ end of the tRNA Ser(UCN) gene on the light strand.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 91%

“…In the mitochondrial tRNA Ser(UCN) gene, five nonsyndromic deafness-associated mutations, A7445G [42][43][44], 7472insC [45][46][47], T7510C [48,84], T7511C [49][50][51][52][53], and G7444A [55][56][57], have been found in families from various ethnic backgrounds. These mutations often occur in homoplasmy or in high levels of heteroplasmy, indicating a high threshold for pathogenicity.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

“…The A7445G mutation was first described in a family from Scotland [42], and established in two unrelated pedigrees from New Zealand [43] and Japan [44]. In the latter two pedigrees, a mild form of the skin condition palmoplantar keratoderma also segregates in the matrilineal line, and the penetrance of this mutation for hearing loss is much higher than in the Scottish pedigree.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

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Mitochondrial rRNA and tRNA and hearing function

2007

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The human ear is a delicate sensory apparatus of hearing for normal communication, and its proper functioning is highly dependent on mitochondrial oxidative phosphorylation. The first mitochondrial point mutation for nonsyndromic and aminoglycoside-induced hearing loss was identified in 1993. Since then a number of inherited mitochondrial mutations have been implicated in hearing loss. Most of the molecular defects responsible for mitochondrial disorder-associated hearing loss are mutations in the 12S rRNA gene and tRNA genes. In this review, after a short description of normal hearing mechanisms and mitochondrial genetics, we outline the recent advances that have been made in the identification of deafness-associated mitochondrial mutations, and discuss how mitochondrial dysfunction contributes to hearing loss.

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Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 91%

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

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Mitochondrial rRNA and tRNA and hearing function

2007

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“…Several mtDNA point mutations have been reported in families with maternally inherited NSSHI; the A1555G mutation in the 12S rRNA gene, which also causes hypersensitivity to aminoglycosides 1,2 and four mutations affecting the tRNASer (UCN) gene -A7445G, 7472insC, T7510C and T7511C. [3][4][5][6][7] The frequency of these mutations in the general population has yet to be determined. Both the A1555G and A7445G mutations have been reported in different ethnic populations raising the possibility that such mutations are more common causes of hearing loss than initially thought.…”

mentioning

confidence: 99%

“…3,7,8 mtDNA haplotype analysis of the three previous families with the A7445G mutation had shown they were unrelated. Similar analysis showed the family described here lacked the T4216C and G13708A base changes found in the New Zealand family 8 and the G14368C polymorphism of the Scottish family.…”

mentioning

confidence: 99%

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation

Hutchin

Lench

Arbuzova³

et al. 2001

Eur J Hum Genet

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Despite the increasing number of reports of families with hearing impairment and mitochondrial DNA (mtDNA) mutations, the frequency of these mutations as causes of non-syndromic sensorineural hearing impairment (NSSHI) remains unknown. Mutations such as A1555G, A7445G and 7472insC have been found in several unrelated families implying they are more frequent than initially thought. We describe a family with NSSHI due to the presence of the homoplasmic mtDNA A7445G mutation in the tRNASer (UCN) gene. This is the fourth such family described with this mutation, all of different genetic backgrounds. Our study also demonstrates the difficulties sometimes encountered in establishing mitochondrial inheritance of hearing impairment in some families. European Journal of Human Genetics (2001) 9, 56-58.

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