Table 1.
Major Characteristics of Individuals with KAT6A Mutations
| Characteristic | Individual 1 (II-1), Family 1 | Individual 2 (II-1) (Twin A), Family 2 | Individual 3 (II-2) (Twin B), Family 2 | Individual 4 (II-2), Family 3 | Individual 5 (II-1), Family 4 | Individual 6 (II-1), Family 5 | Individual 7 (II-1), Family 6 |
|---|---|---|---|---|---|---|---|
| KAT6A mutation/ exon | c.3879 dupA p.Glu1294Argfs∗19 exon 18 |
c.3116_3117 delCT p.Ser1039∗ exon 17 |
c.3116_3117 delCT p.Ser1039∗ exon 17 |
c.4292 dupT p.Leu1431Phefs∗8 exon 18 |
c.4108G>T p.Glu1370∗ exon 18 |
c.3830_3831insTT p.Arg1278Serfs∗17 exon 18 |
arr 8p11.21 (41,786,230-42,022,328) exons 1–18 |
| Sex/current age | F-2.3y | F-10y | F- sudden death, 10y | M-1.3y | F-6.5y | M-2.2y | M-17y |
| Birth weight and age of gestation | 3.3 kg, 37 wks | 2.2 kg, 32 wks | 2.0 kg, 32 wks | 2.18 kg, 36 wks | 3.2 kg, 39 wks | 2.4 kg, 38 wks | 2.37 kg, 37 wks |
| Neurological features | |||||||
| Global dev. delay | + | + | + | + | + | + | + |
| Speech delay | + | + (Sign language) | + (Sign language) | + | + | + | + |
| Neonatal hypotonia | + (Axial, stiff extremities) | + | +Infantile, then mild | +Significant | + | + (Axial, stiff extremities) | ? |
| Craniofacial features | |||||||
| Skull abnormality | Craniosynostosis, microcephaly | Craniosynostosis | Recurrent craniosynostosis | (Large AF) | – | Plagiocephaly, microcephaly | Microcephaly |
| Bitemporal narrowing | + | + | + | + | + | + | + |
| Broad nasal tip | + | + | + | + | + | + | + |
| Large/low set/posteriorly rotated ears | +/+/+ | +/+/(+) | +/+/(+) | −/+/+ | −/−/− | −/+/+ | −/−/+ |
| Thin upper lip | + | + (tented) | + (tented) | + (tented) | + (tented) | + | + |
| DT corners mouth | + | + | + | + | (+) | Triangular mouth | − |
| Other features | |||||||
| Cardiac defect/ Method of closure | PDA, ASD/ Surgery | PDA, ASD/ Catheter | PDA, PFO/ Spontaneous closure | PDA, ASD, VSD/ Surgery | ASD sec, PDA/ Catheter | − | ? |
| Feeding problems | + | + | + | + | − | + | − |
| Eye problems | − | Ptosis, strabismus | Ptosis, strabismus | Nasolacrimal stenosis | Strabismus, suspected CVI | Limited fixation, suspected CVI | Strabismus, hypermetropia |
| Other features | 5th clinodactyly 3 hemangiomata Widely spaced nipples |
Pre-auricular pits | Hypospadias Pre-auricular pits Widely spaced nipples Peg-shaped teeth |
Epicanthal folds, L single transverse palmar crease, Right Sydney crease 5th clinodactyly |
Bilateral single palmar creases | Broad eyebrows, Crowded, abnormally shaped teeth | |
+, present; −, absent or investigation not performed; ?, no information available; F, female; M, male; AF, anterior fontanelle; DT, down-turned; PDA, patent ductus arteriosus; ASD, atrial septal defect; PFO, patent foramen ovale; VSD, ventricle septum defect; CVI, cortical visual impairment; L, left; 5th clinodactyly, clinodactyly of the fifth finger bilaterally.