Literature DB >> 15241512

[Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis].

K Riemann1, M Pfister, N Blin, S Kupka.   

Abstract

Hearing impairment (HI) is one of the most common neurosensory disorders, with sensorineural hereditary HI being the most common form. Mitochondrial maternally inherited HI appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing deficiencies, with an even higher percentage for some syndromic cases. This review summarises the syndromic and non-syndromic characteristics of sensorineural HI based on mutations in mitochondrially encoded genes, the relationship to aminoglycoside-induced HI and related diagnostic tools.

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Year:  2004        PMID： 15241512     DOI： 10.1007/s00106-003-0993-9

Source DB:  PubMed          Journal:  HNO        ISSN： 0017-6192            Impact factor:   1.284


  43 in total

Review 1.  Heart disease and mitochondrial DNA mutations.

Authors:  J M Shoffner; D C Wallace
Journal:  Heart Dis Stroke       Date:  1992 Jul-Aug

Review 2.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

3.  Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys)

Authors:  K Kameoka; H Isotani; K Tanaka; H Kitaoka; N Ohsawa
Journal:  Diabetes Care       Date:  1998-11       Impact factor: 19.112

4.  Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Authors:  C T Moraes; F Ciacci; E Bonilla; C Jansen; M Hirano; N Rao; R E Lovelace; L P Rowland; E A Schon; S DiMauro
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808

5.  Candidate locus for a nuclear modifier gene for maternally inherited deafness.

Authors:  Y Bykhovskaya; X Estivill; K Taylor; T Hang; M Hamon; R A Casano; H Yang; J I Rotter; M Shohat; N Fischel-Ghodsian
Journal:  Am J Hum Genet       Date:  2000-04-27       Impact factor: 11.025

6.  Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Authors:  L Jaber; M Shohat; X Bu; N Fischel-Ghodsian; H Y Yang; S J Wang; J I Rotter
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

7.  Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

Authors:  Susan Kupka; Tímea Tóth; Maciej Wróbel; Ulrike Zeissler; Witold Szyfter; Krzysztof Szyfter; Grazyna Niedzielska; Jerzy Bal; Hans-Peter Zenner; István Sziklai; Nikolaus Blin; Markus Pfister
Journal:  Hum Mutat       Date:  2002-03       Impact factor: 4.878

8.  High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors:  P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

9.  Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

Authors:  M Tekin; T Duman; G Boğoçlu; A İncesulu; E Çomak; S Fitoz; E Yılmaz; I İlhan; N Akar
Journal:  Eur J Pediatr       Date:  2003-01-21       Impact factor: 3.183

10.  Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.

Authors:  Y Bykhovskaya; H Yang; K Taylor; T Hang; R Y Tun; X Estivill; R A Casano; K Majamaa; M Shohat; N Fischel-Ghodsian
Journal:  Genet Med       Date:  2001 May-Jun       Impact factor: 8.822
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