Table 3 Pathogenic variants identified by the NGS analysis in this study. Variants identified by the NGS panel
Patient N° | Age-ranges onset (years) / sex | Gene | Nucleotide change | Protein change | Trait | Concordant phenotype | ExAC frequency | SIFT score | Polyphen 2 | Variant reported | Notes | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
6 | NN / F | AGK | c.412C > T / c.412C > T | p.Arg138* | AR | Yes | 0 | NA | NA | Yes | Csg; parents: htz | Mayr et al., 2012 [36] |
7 | NN / M | ETHE1 | c.608C > T / c.554 T > G | p.Ser203Phe / p.Leu185Arg | AR | Yes | < 0.01% < 0.01% | 0.0 0.0 | 0.975 1 | No Yes | Parents: htz | Tiranti et al., 2005 [37] |
10 | NN / F | DNAJC19 | c.51delT / c.51delT | p.Phe17Leufs*10 | AR | Yes | 0 | NA | NA | No | – | – |
13 | 1–16 / M | SDHAF1 | c.164G > C / c.164G > C | p.Arg55Pro | AR | Yes | 0 | 0.0 | 1.0 | Yes | Parents: htz | Ghezzi et al., 2009 [38] |
15 | 1–16 / M | TK2 | c.343C > T / c.323C > T | p.Leu115Phe / p.Thr108Met | AR | Yes | 0 < 0.01% | 0.0 0.2 | 1 1 | No Yes | Parents: htz | Béhin et al., 2012 [39] |
29 | > 16 / F | TWNK | c.1363A > G | p.Met455Val | AD | Yes | 0 | 0.0 | 0.996 | No | – | – |
43 | > 16 / F | TYMP | c.1112 T > C / c.1112 T > C | p.Leu371Pro | AR | Yes | 0 | 0.18 | 0.999 | Yes | – | Kocaefe et al., 2003 [40] |
68 | > 16 / M | OPA1 | c.1892_1893delAT | p.His631Argfs*3 | AD | Yes | 0 | NA | NA | Yes | – | Ferré et al., 2009 [41] |