Table 4 Pathogenic mtDNA variants identified by Pime-Seq from the 192 apparently healthy pregnant women
Sample ID | Variant called by Pime-Seq | HF calculated from Pime-Seq (%) | Gene | Mitomap disease description |
|---|---|---|---|---|
22MS0090 | m. 1555A > G | 100 | MT-RNR1 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic; |
22MS0122 | m. 1555A > G | 98.1 | MT-RNR1 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic; |
22MS0077 | m. 1555A > G | 2.4 | MT-RNR1 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic; |
22MS0079 | m. 3243A > G | 13.4 | MT-TL1 | MELAS; Leigh Syndrome; DMDF; MIDD; SNHL; CPEO; MM; FSGS; ASD; Cardiac + multi organ dysfunction |