Figure 2.
NDUFB11 Mutations in Subjects 1 and 2
(A) Sequence electropherograms of part of NDUFB11 exon 2 from subject 1’s genomic DNA (gDNA) isolated from blood (upper panel) and gDNA and mRNA (cDNA) of dermal skin fibroblasts (middle and lower panels, respectively). Nucleotide triplets and encoded amino acids (three-letter code) are indicated above the electropherograms. The red arrow points to the double peak in the two upper electropherograms; the lower peak of the mutant base (T) is superimposed on the higher peak of the wild-type base (C). Subject 1 carries the mosaic NDUFB11 mutation c.[ = /262C>T] (p.[ = /Arg88∗]).
(B) Sequence electropherograms of part of NDUFB11 exon 3 from gDNA of subject 2 (upper panel), the aborted fetus (second from the top panel), and their healthy mother (second from the bottom panel). Nucleotide triplets and encoded amino acids of the wild-type and mutated allele are indicated above the electropherograms. The red arrow points to the first double peak in the electropherograms and indicates the start of the frameshift. The three individuals are heterozygous for the NDUFB11 mutation c.402delG (p.Arg134Serfs∗3). The sequence electropherogram from leukocyte-derived mRNA (cDNA) of subject 2 shows only wild-type NDUFB11 transcripts (bottom panel).