Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

Journal of Human Genetics

Volumn 44, Issue 6, 1999, Pages 388-390

  Scrimshaw, Brian J ^a   Faed, Jim M ^a   Tate, Warren P ^b   Yun, Kankatsu ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Aminoglycoside induced ototoxicity; Mitochondrial DNA; Multiplex allele specific polymerase chain reaction

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; MITOCHONDRIAL DNA; RIBOSOME RNA;

ARTICLE; CONTROLLED STUDY; DRUG INDUCED DISEASE; GENE MUTATION; HEARING LOSS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MASS SCREENING; NEW ZEALAND; OTOTOXICITY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION;

EID: 0032700610     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050184     Document Type: Article

References (9)

1. El-Schahawi M, Lopez deMunain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, Dimauro S (1997) Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy. Neurology 48:453-456
2. Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, Moral L, Scozzari R, Durbano L, Zeviani M, Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mitochondrial DNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 66:27-35
3. Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE (1997) Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178
4. Higashi K (1989) Unique inheritance of streptomycin induced deafness. Clin Genet 33:433-436
5. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, Cortopassi G (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21:4174-4179
6. Marthijs G, Claes S, Longo-Mbenza B, Cassiman JJ (1996) Nonsyndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12s ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 4:46-51
7. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE (1997) Mutation in the mitochondrial 12srRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Hum Genet 34:169-172
8. Prezant TR, Agapian JV, Bohlman MC (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet 4:289-294
9. Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ (1997) Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 107:483-490