Table 2.
Molecular features
| Number of cases | Type of mutation | Exon | Nucleic acid | Protein | Reference | Others |
|---|---|---|---|---|---|---|
| 31 patients | Nonsense stop codon | 2 | c.65C>A (NM_000018.3) | p.Ser22X | Reported by Watanabe et al. (2000) | |
| 2 patients | Nonsense stop codon | 3 | c.134C>A (NM_000018.3) | P.Ser45X | Reported by Watanabe et al. (2000) | |
| 1 patient | Nonsense substitution | 7 | c.494T>C (NM_000018.3) | p.Phe165Ser | Unreported | Homozygous variant in exon 4 of ZNF423 c.3250G>A (p.Val1084lle) (NM_015069.2) |
| 1 patient | Nonsense stop codon | c.1349G>A (NM_000018.3) | p.Arg450His | Fukao et al. (2001) |