Summary of mutations in the NHS gene
| Sequence change | Exon/intron | Predicted protein | Family and phenotype |
|---|---|---|---|
| *Also reported by Burdon and colleagues. | |||
| †Reported by Burdon and colleagues. | |||
| ‡Identified within the same family. | |||
| 3738–3739delTG | Exon 6 | C1246-A1247fsX15 | Family 1 with typical NHS features and bilateral cleft palate |
| 400delC* | Exon 1 | R134fsX61 | Family 2 with typical NHS features |
| 2687delA | Exon 6 | Q896fsX10 | Family 3 with typical NHS features and severe mental retardation, epilepsy and hypotonia |
| 3459delC† | Exon 6 | L1154fsX28 | |
| 718insG†‡ | Exon 3 | E240fsX36 | |
| IVS2-3C→G†‡ | Intron 2 | ||
| 2387insC† | Exon 6 | S797fsX35 | |
| 1117C→T† | Exon 5 | R378STOP | |