Mitochondrial mutations associated with nonsyndromic hearing impairment

Gene

Mutation

Possible additional symptoms

References

MTRNR1

1555A->G

Aminoglycoside induced/worsened

Prezant et al., 1993 ;  Usami et al., 1997 ; Estivill et al., 1998

MTRNR1

1494C->T

Aminoglycoside induced/worsened

Zhao et al., 2004

MTRNR1

961 (different mutations)

Aminoglycoside induced/worsened

Bacino et al., 1995  ; Casano et al., 1999

MTTS1

7445A->G

Palmoplantar keratoderma

Reid et al., 1994 ; Fischel-Ghodsian et al., 1995 ; Sevior et al., 1998  

MTTS1

7472insC

Neurological dysfunction, including ataxia,
dysarthria and myoclonus

Tiranti et al., 1995 ; Jaksch et al., 1998a ; Jaksch et al., 1998b ;  Schuelke et al.,1998 ; Verhoeven et al., 1999 

MTTS1

7510T->C

no additional symptoms reported

Hutchin et al., 2000

MTTS1

7511T->C

no additional symptoms reported

Friedman et al., 1999 ; Sue et al., 1999 

 

 

 

 


Maternally inherited mitochondrial mutations give rise to nonsyndromic hearing impairment in some patients. However, for some mutations, patients have been found with additional symptoms accompanying the hearing impairment.