Table 2.
Results of Whole Exome Sequencing using proband's fibroblasts.
| Gene | Disease | Variant | Nucleotide | Inheritance pattern | Zygosity | Reference | Classification |
|---|---|---|---|---|---|---|---|
| GALT | Galactosemia | p.Q188R | c.563 A > G | AR | Het (paternal) |
rs75391579 | Pathogenic |
| GALT | Galactosemia | N/A | c.-119_-116delGTCA | AR | Het (maternal) |
rs111033640 | Pathogenic |
| GALT | Galactosemia | p.N314D | c.940 A > G | AR | Het (maternal) |
rs2070074 | Pathogenic |
| RYR1 | Malignant hyperthermia Susceptibility | p.G2434R | c.7300G > A | AD | Het (maternal) |
rs121918593 | Pathogenic |
| PNKD | Paroxysmal nonkinesigenic dyskenesia | p.L18F | c.52C > T | AD | Het (maternal) |
Novel variant | VUS |
| MTO1 | Combined oxidative phosphorylation deficiency | p.T207M | c.620C > T | AR | Het (Maternal) |
rs139334277 | VUS |
| NDUFA2 | Leigh Syndrome/ Complex I deficiency |
p.P63L | c.188C > T | AR | Het (paternal) |
Novel variant | VUS |
Abbreviation: AD: Autosomal dominant; AR: Autosomal recessive; Het: Heterozygous; VUS: Variant of Unknown Significance.