Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

European Journal of Human Genetics

Volumn 8, Issue 4, 2000, Pages 315-318

  Lehtonen, Mervi S ^a   Uimonen, Seija ^a   Hassinen, Ilmo E ^a   Majamaa, Kari ^a  

^a UNIVERSITY OF OULU   (Finland)

Author keywords

Aminoglycoside; Etiology; Genetic epidemiology; Hereditary hearing loss; MELAS; Mitochondrial encephalomyopathy; Point mutation; Population genetics; Prevalence

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUTATION RATE; PERCEPTION DEAFNESS; POINT MUTATION; PRIORITY JOURNAL;

COHORT STUDIES; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; GENE FREQUENCY; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HEARING TESTS; HUMANS; MALE; PEDIGREE; POINT MUTATION;

EID: 0034116896     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200455     Document Type: Article

References (17)

1. Johns DR: Mitochondrial DNA and disease. N Engl J Med 1995; 333: 638-644.
2. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM: Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120: 1713-1721.
3. Majamaa K, Moilanen JS, Uimonen S et al: Prevalence, in an adult population, a A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes. Am J Hum Genet 1998; 63: 447-454.
4. Prezant TR, Agapian JV, Bohlman MC et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294.
5. Reid FM, Vernham GA, Jacobs HT: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243-247.
6. Ser(UCN) gene. Hum Mol Genet 1995; 4: 1421-1427.
7. Ensink RJH, Verhoeven MSc, Marres HAM et al: Early-onset sensorineural hearing loss and late onset neurologic complaints caused by a mitochondrial mutation at position 7472. Arch Otolaryngol 1998; 124: 886-891.
8. Usami S, Abe S, Kasai M et al: Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997; 107: 483-490.
9. El-Schahawi M, López de Munain A, Sarrazin AM et al: Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: evidence of heteroplasmy. Neurology 1997; 48: 453-456.
10. Estivill X, Govea N, Barceló A et al: Familial progressive sensor-ineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998; 62: 27-35.
11. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-822.
12. Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, Maw M: Mitochondrial mutation associated with nonsyndromic deafness. Am J Otolaryngol 1995; 16: 403-408.
13. Zeviani M, Amati P, Bresolin N et al: Rapid detection of the A → G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1991; 48; 203-211.
14. Torroni A, Huoponen K, Francalacci P et al: Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144: 1835-1850.
15. LeuUUR gene point mutation. Muscle Nerve 1995; 3: 124-130.
16. Susser E, Susser M: Familial aggregation studies. A note on their epidemiological properties. Am J Epidem 1989; 129: 23-30.
17. Matthijs G, Claes S, Longo-Mbenza B, Cassiman J-J: Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large zairean pedigree. Eur J Hum Genet 1996; 4: 46-51.