Table 2.
Disease-segregating mutations identified through WES and subsequent analyses in a Spanish family featuring FCMTE
| Gene | Chr | Nucleotide variation |
Protein variation |
Spanish Control Population (n=188) |
Pathogenecity Prediction (MutPred/SNPs&Go) |
Expression | Associated disease |
|---|---|---|---|---|---|---|---|
| ACMSD | 2q21.3 | c.77G>A | p.W26X | Absent | Truncated protein |
Kidney, liver, and
brain |
Epilepsy, Alzheimer
and Huntington |
| MYBBP1A | 17p13.3 | c.2758G>A | p.A920T | Absent | 0.592/Neutral | Highly expressed | Tumor suppressor |
Highlighted in bold is the disease-segregating mutation responsible for the FCMTE phenotype seen in our patients.Computational methods for pathogenecity prediction: MutPred (http://mutpred.mutdb.org/) and SNPs&GO (http://snps-and-go.biocomp.unibo.it/snps-and-go/).