Table 1.
List of the identified truncating SPEN mutations
| Nucleotide change | Amino acid change | gnomAD | Domain | Affected individual(s) | Origin |
|---|---|---|---|---|---|
| c.1603C>T | p.Arg535∗ | – | RRM4 | s16 | de novo |
| c.2014C>T | p.Arg672∗ | – | – | s4 | de novo |
| c.2101G>T | p.Glu701∗ | – | – | s30 | de novo |
| c.2262_2265dupGCTT | p.Tyr756Alafs∗13 | – | – | s27 | unknowna |
| c.2269_2272dupAGCC | p.Arg758Glnfs∗11 | – | – | s24 | de novo |
| c.2956_2959dupAGGC | p.Arg987Glnfs∗36 | – | – | s20 | de novo |
| c.3029dupA | p.Asp1011Glyfs∗11 | – | – | s33 | de novo |
| c.3199C>T | p.Gln1067∗ | – | – | s32 | de novo |
| c.3508C>T | p.Arg1170∗ | – | – | s31 | de novo |
| c.3793C>T | p.Arg1265∗ | – | – | s10, s13 | de novo |
| c.5013_5017delGAAGA | p.Glu1671Aspfs∗16 | – | – | s23 | de novo |
| c.5392C>T | p.Gln1798∗ | – | – | s34 | presumed de novob |
| c.5414delT | p.Leu1805∗ | – | – | s26 | de novo |
| c.5806C>T | p.Arg1936∗ | – | – | s6 | familialc |
| c.6058C>T | p.Gln2020∗ | – | – | s1 | de novo |
| c.6087_6088delAC | p.Glu2029Aspfs∗5 | – | – | s2 | de novo |
| c.6223_6227delTCAAA | p.Ser2075Glufs∗46 | – | – | s8 | de novo |
| c.6226_6227delAA | p.Lys2076Glufs∗46 | – | – | s11 | de novo |
| c.6570dupT | p.Lys2191∗ | – | – | s17 | de novo |
| c.6641_6642delAG | p.Glu2214Alafs∗11 | – | RID | s28 | de novo |
| c.6799G>T | p.Glu2267∗ | – | RID | s29 | presumed de novod |
| c.6974_6975delTT | p.Leu2325Argfs∗33 | – | RID | s12 | de novo |
| c.7024C>T | p.Arg2342∗ | – | RID | s9 | de novo |
| c.7324G>T | p.Glu2442∗ | – | RID | s5 | de novo |
| c.7328delA | p.Glu2443Glyfs∗17 | – | RID | s18, s19 | familial (2 affected siblings)e |
| c.7338_7339dupCA | p.Arg2447Thrfs∗14 | – | RID | s3 | de novo |
| c.7373delC | p.Pro2458Argfs∗2 | – | RID | s15 | de novo |
| c.7374_7381delGGTGACCC | p.Val2459Thrfs∗36 | – | RID | s14 | de novo |
| c.7492delG | p.Val2498∗ | – | RID | s7 | de novo |
| c.9950dupC | p.Ala3318Glyfs∗30 | – | – | s21 | de novo |
| c.10909_10910delAG | p.His3638Profs∗7 | – | SPOC | s22 | de novo |
| c.10953dupC | p.Asn3652Glnfs∗17 | – | SPOC | s25 | de novo |
All variants have been submitted to ClinVar (ClinVar: SCV001468518–SCV001468547) or DECIPHER (DECIPHER: 280862 and 286415).
a
Parental DNA specimens were not available for testing.
b
The father was confirmed negative for the variant, while the mother was not available for testing.
c
Inherited from the affected mother.
d
The mother was confirmed negative for the variant, while the father was not available for testing.
e
Inherited from the affected father.