Table 1 Somatic mtDNA mutations in BMF oncocytomas

From: Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt–Hogg–Dubé tumors

Patient #

Surgery/tumor

Mutation nucleotide

Mutation protein

Gene

Heteroplasmy

BMF1

1/1

m.12425delA

p.N30Lfs*26

MT-ND5

71%

 

1/2

m.3571insC

p.L89Pfs*13

MT-ND1

88%

  

m.12425delA

p.N30Lfs*26

MT-ND5

27%

BMF2

1/1

m.11038delA

p.K93Dfs*7

MT-ND4

99%

 

1/2

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

1/3

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

1/4

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

1/5

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

2/1a

m.11038delA

p.K93Dfs*7

MT-ND4

98%

 

2/2a,b

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

2/3a,b

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

2/4a,b

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

2/5a,b

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

 

2/6a,b

m.11038delA

p.K93Dfs*7

MT-ND4

Hom

BMF3

1/1

m.G13915A

p.G524X

MT-ND5

Hom

BMF4

1/1

m.3571insC

p.L89Pfs*13

MT-ND1

93%

 

1/2

m.3571insC

p.L89Pfs*13

MT-ND1

93%

 

1/3b

m.3571insC

p.L89Pfs*13

MT-ND1

12%

 

1/4b

m.3571insC

p.L89Pfs*13

MT-ND1

88%

 

1/5b

m.3571insC

p.L89Pfs*13

MT-ND1

63%

 

1/6b

m.3571insC

p.L89Pfs*13

MT-ND1

90%

 

1/7b

m.3571insC

p.L89Pfs*13

MT-ND1

16%

BMF5

1/1

m.G4036A

p.G244X

MT-ND1

99%

 

1/2

m.G4036A

p.G244X

MT-ND1

98%

BMF6

1/1

m.10952insC

p.L65Pfs*45

MT-ND4

Hom

BMF7

1/1

m.C7483T

Anticodon UCA→UUA

MT-TS1

ca.50%

  1. Abbreviation: Hom, homoplasmic mutation as detected by electropherogram.
  2. aSamples from surgery 2 of patient BMF2 derived from the contralateral kidney.
  3. bApproximately 600 bp of the mitochondrial genome, spanning the mutation, have been sequenced in these samples.
Back to article page