Table 1.
Identification of BRPF1 Mutations in Ten Individuals
| Individual | Mutation (GenBank:NM_001003694.1) | Substitution in BRPF1 | Origin of Mutation |
|---|---|---|---|
| P1 | c.362_363delAG | p.Glu121Glyfs∗2 | de novo |
| P2 | c.942_955del | p.Trp315Leufs∗26 | parental samples not available; biological mother affected by intellectual disability and father by cerebral palsy |
| P3 | c.942_955del | p.Trp315Leufs∗26 | |
| P4 | c.1108C>T | p.Pro370Ser | mosaic in unaffected mother; mosaicism, 7% in blood DNA, based on exome sequencing reads (21/293) |
| P5 | c.1363C>T | p.Arg455∗ | de novo |
| P6 | c.1688_1689del | p.His563Profs∗8 | de novo |
| P7 | c.1883_1886dup | p.Gln629Hisfs∗34 | de novo |
| P8 | c.2497C>T | p.Arg833∗ | de novo |
| P9 | c.2915dupC | p.Met973Asnfs∗24 | de novo |
| P10 | c.3298C>T | p.Arg1100∗ | de novo |