Table 1. Clinical findings in individuals with predicted haploinsufficiency of ZNF462.
| Pedigree (subject) | 1 (VI1) | 1 (VI2) | 1 (III2) | 2 (II1) | 3 (II1) | 4 (II1) | 5 (II1) | 6 (II1) |
|---|---|---|---|---|---|---|---|---|
| Age at last exam/gender | 2 years/F | 4 years/F | 34 years/M | 2 years/M | 19 months/M | 5 years/F | 12 years/F | 9 years/M |
| Mode of inheritance | Paternally inherited | Paternally inherited | Maternally inherited | De novo | De novo | De novo | De novo | De novo |
| ZNF462 variant | c.3787C>T p.(Arg1263*) | c.3787C>T p.(Arg1263*) | c.3787C>T p.(Arg1263*) | c.2979_2980delinsA p.(Val994Trpfs*147) | c.4263delA p.(Glu1422Serfs*6) | Chr9:g.(108940763-110561397)del (hg19) | Chr9:g(108464368-110362345)del (hg19) | c.5145delC p.(Tyr1716Thrfs*28) |
| Birth weight (%ile)/head circumference at birth (%ile) | 3.7 kg (96%ile)/35.5 cm (96%ile) | NA | NA | 3.2 kg (40%ile)/NA | 3.2 kg (36%ile)/32 cm (2%ile) | 3.5 kg (25%ile)/33 cm (25%ile)a | 2.9 kg (10%ile for 41 weeks)/33 cm (third%ile) | 3.88 kg (75%ile)/NA |
| Height at last exam (%ile) | 70 cm (75%ile)b | 66 cm (50%ile)c | 168 cm (10%ile) | 91 cm (27%ile) | 82.5 cm (34%ile) | 118 cm (97%ile)a | NA | 133.5 cm (25%ile) |
| Head circumference at last exam (%ile) | 47 cm (97%ile)b | 43 cm (50%ile)c | 57 cm (75%ile) | 50.5 cm (56%ile) | 46 cm (12%ile) | 49 cm (10%ile)a | 41.2 cm at 17 months (<3%ile) | 51.5 cm (10%ile) |
| Developmental delay/ASD | − | − | − | + | + | − | + | + |
| Hypotonia | − | − | − | − | + | + | − | + |
| Head shape | Metopic ridge | Metopic ridge | Metopic ridge | Metopic ridge | Lambdoid synostosis/metopic ridge | − | − | Facial asymmetry |
| Corpus callosum dysgenesis | + | − | − | − | + | + | Not tested | − |
| Ptosis | + | + | + | + | + | + | − | + |
| Down slanting palpebral fissures | + | + | − | + | + | + | − | + |
| Arched eyebrows | + | − | − | + | − | + | − | − |
| Epicanthal folds | − | + | − | + | + | + | − | − |
| Short upturned nose with bulbous tip | + | + | − | + | + | + | − | + |
| Marked cupid bow/wide philtrum | + | + | − | − | − | + | + | − |
| Other | Transposition of great arteries, silent aspirations on swallow exam | Ventricular septal defect, bilateral urethral reflux, hyperopia, increased appetite, high pain threshold | Umbilical hernia repair |
Abbreviations: ASD, autism spectrum disorder; NA, not applicable.
a
According to Norwegian growth charts.
b
Measured at 8 months.
c
Measured at 6 months.