Table 1.
List of mutations reported in DLX5 and DLX6 genes to date
| Mutation | Codon change | Amino acid change | Nucleotide change | Protein | Reported phenotype | Reference |
|---|---|---|---|---|---|---|
| Nonsense (DLX5) | GAG-TAG | Glu39Term | c.115G>T | p.E39* | SHFM | Sowińska-Seidler et al., 2014 |
| Missense (DLX5) | CAA-CCA | Gln178Pro | c.533A>C | p.Q178P | SHFM |
Shamseldin et al., 2012 Wang et al., 2014 |
| Missense (DLX5) | CAG-CAT | Gln186His | c.558G>T | p.Q186H | SHFM | Wang et al., 2014 |
| Missense (DLX5) | ATC-ATG | Ile192Met | c.576C>G | p.I192M | RHS, SHFM | Wolf et al., 2014 |
| Small insertion (DLX5) | CAG∧161TACCTacctCGC | c.482_485dupACCT | p.Ala163Profs*55 | SHFM | Ullah et al., 2016 | |
| Missense (DLX6) | GTG-GAG | Val211Glu | c.632T>A | p.V211E | SHFM | Present study |
RHS, Rapp-Hodgkin syndrome; SHFM, split-hand/foot malformation.