Table 1.
Mutations of the ZTTK syndrome reported in literatures to date
| Literatures | Nucleotide mutations | Protein mutations |
|---|---|---|
| Zhu et al. (2015), Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) | c.5753_5756delTTAG | p. Val1918Glufs |
| Kim et al. (2016) | c.6002_6003insCC | p. Arg2002Glnfs |
| Kim et al. (2016) | c.4640delA | p. His1547Leufs |
| Kim et al. (2016) | c.5549_5550del | p. (Arg1850llefs) |
| Kim et al. (2016) | c.1881_1882del | p. (Val629Alafs) |
| Kim et al. (2016), Tokita et al. (2016) |
c.3852_3856del c.4999_5013del; |
p. (Met1284llefs) p. Asp1667_Asn1671del; |
| Kim et al. (2016) |
c.5031‐5032insAA c.4358_4359del |
Asp1678Lysfs) p. (Thr1453Serfs) |
| Kim et al. (2016) | c.6087del | p. (Ser2029Argfs) |
| Kim et al. (2016) | c.3597_3598dup | p. (Pro1200Argfs) |
| Kim et al. (2016) | c.4151_4174del24 | p. (Leu1384_Val1391del) |
| Kim et al. (2016) | c.2365del | p. (Ser789Alafs) |
| Kim et al. (2016) | c.3344C＞T | p. (Arg1112) |
| Kim et al. (2016) | c.268del | p. (Ser90Valfs) |
| Kim et al. (2016) | c.4055del | p. (Pro1352Glnfs) |
| Kim et al. (2016) | c.4549dup | p. (Glu1517Glyfs) |
| Kim et al. (2016) | Whole gene deletiona | — |
| Kim et al. (2016) | ||
| Tokita et al. (2016) | c.286C>T | p. Gln96Ter |
| Tokita et al. (2016) | c.3073dupA | p. Met1025Asnfs |
| Tokita et al. (2016) | c.6233delC | p. Pro2078Hisfs |
| Mayo Clinic | c.3556C>Tb | p. Gln1186Ter |
| Present case | c.394C＞T | p. Q132X |
a
This case carries a small deletion of copy number mutations, including SON and five other genes: [hg19] Chr21: g. (34877993_34894566‐3559909) del (ISCN arr 21q.22.11q22.11 (34894566–3527867) × 1 dn.
b
Mayo Clinic Heredity Laboratory, February 2018.