Table 1.
Four variants in genic regions were identified as co-segregating with the disease phenotype
| Hg18Pos Chr19 | REF | ALT | Gene name | Location | GERP | Amino acid | SIFT |
|---|---|---|---|---|---|---|---|
| Genic variants | |||||||
| 3929097 | G | T | eEF2 | Exon 12 | 5.38 | P596H | DAMAGING |
| 1036965 | C | T | HMHA1 | Exon 23 | 0.957 | T1124I | tolerated |
| 1033913 | G | A | HMHA1 | Exon 20 | 1.44 | SYN | |
| 3413773 | GTCTTCTTC | GTCTTC | NFIC | 3′UTR | NA | NA | |
Four family members were used for critical interval sequencing via custom capture array. The P596H amino acid substitution in eEF2 is the only highly evolutionarily conserved variant predicted to be ‘damaging’. REF, reference nucleotide; ALT, alternate found upon sequencing; GERP, genomic evolutionary rate profiling (43); SIFT, ‘Sorting Tolerant From Intolerant’ algorithm (42); SYN, synonymous variant.