Maternally inherited deafness associated with a T1095C mutation in the mDNA

Alessandro Tessa, Aldo Giannotti, Luigi Tieri, Laura Vilarinho, Giacomo Marotta, Filippo M. Santorelli

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

Hearing loss is a relatively frequent defect in children with a genetic or predisposition basis in about 50% of cases. Mitochondrial DNA (mtDNA)-associated disorder often present with sensorineural hearing loss (SNHL) either in isolation or as a part of a multisystem disorder in adults but the frequency in pediatric cases is unknown. We analysed deafness-related mtDNA mutations in 80 deaf children to assess the relative frequency of alterations in childhood-onset SNHL. In 16 patients in whom maternal inheritance was possible, we screened for new mutations likely to affect mitochondrial protein synthesis. In one child we detected a novel mutation (T1095C) in the 12S rRNA gene. This mutation fulfils the suggested criteria for definition of a disease-related nucleotide variant. No mutations were found in other patients. Although we cannot exclude the presence of still undefined new mtDNA mutations, our data suggest that mtDNA defect are not common in childhood-onset SNHL.

Original languageEnglish
Pages (from-to)147-149
Number of pages3
JournalEuropean Journal of Human Genetics
Volume9
Issue number2
Publication statusPublished - 2001

Fingerprint

Deafness
Mitochondrial DNA
Mutation
Sensorineural Hearing Loss
Mitochondrial Proteins
Genetic Predisposition to Disease
rRNA Genes
Hearing Loss
Maternal Inheritance
Nucleotides
Pediatrics

Keywords

  • Hearing loss
  • MtDNA
  • Mutation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Tessa, A., Giannotti, A., Tieri, L., Vilarinho, L., Marotta, G., & Santorelli, F. M. (2001). Maternally inherited deafness associated with a T1095C mutation in the mDNA. European Journal of Human Genetics, 9(2), 147-149.

Maternally inherited deafness associated with a T1095C mutation in the mDNA. / Tessa, Alessandro; Giannotti, Aldo; Tieri, Luigi; Vilarinho, Laura; Marotta, Giacomo; Santorelli, Filippo M.

In: European Journal of Human Genetics, Vol. 9, No. 2, 2001, p. 147-149.

Research output: Contribution to journalArticle

Tessa, A, Giannotti, A, Tieri, L, Vilarinho, L, Marotta, G & Santorelli, FM 2001, 'Maternally inherited deafness associated with a T1095C mutation in the mDNA', European Journal of Human Genetics, vol. 9, no. 2, pp. 147-149.
Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM. Maternally inherited deafness associated with a T1095C mutation in the mDNA. European Journal of Human Genetics. 2001;9(2):147-149.
Tessa, Alessandro ; Giannotti, Aldo ; Tieri, Luigi ; Vilarinho, Laura ; Marotta, Giacomo ; Santorelli, Filippo M. / Maternally inherited deafness associated with a T1095C mutation in the mDNA. In: European Journal of Human Genetics. 2001 ; Vol. 9, No. 2. pp. 147-149.
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