Table 3.
WES prioritised variants. Variant filtering was performed using an in-house bioinformatics pipeline and Variant Studio software (Illumina). * Data obtained from the ExAC database [11]. Abbreviations: Het, heterozygous; Hom, homozygous; MAF, minor allele frequency.
| Gene | Nucleotide Change | Amino Acid Change | Variant State | Located in a Region of LCSH Common to Both Affected Siblings | MAF * | Comments |
|---|---|---|---|---|---|---|
| CACNA1A | NM_023035.2: c.793C>G | NP_075461.2: p.(Gln265Glu) | Het | No | 0.0 | Point mutations in CACNA1A are consistent with phenotype. Doesn’t fit apparent inheritance pattern in this pedigree. |
| SACS | NM_014363.4: c.7962T>G | NP_003045.2: p.(Tyr2654*) | Hom | Yes | 0.0 | Truncating mutation. Homozygous in both affected siblings. Consistent with phenotype. |
| ZNF592 | NM_014630.2: c.3023G>A | NP_055445.2: p.(Arg1008Gln) | Het | No | 4.523 × 10−5 | Incomplete concordance with phenotype; AR disorder, single het variant detected only. |