Table 2.
Clinical description of previously reported males carrying KIAA2022 mutations
| Family | Family 11 2 | Family 22 | Family 32 | Family 42 | Family 53 | Family 63 | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
| Age (years) | 13 | 20 | 6 | 4 | 8 | 14 | 10 | 40 | 3 | 5 |
| Mutation | InvX | InvX | Ser1200fs | Ser1200fs | Exon 1 dup | Arg62fs | Arg62fs | Arg62fs | Gln705* | Arg322* |
| XCI | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. |
| KIAA2022 expression | Absent | Absent | ? | ? | 40% | ? | ? | ? | ? | ? |
| Walking age (months) | 36 | 36 | 34 | 48 | 17 | 18 | 18,5 | 14 | − | 48 |
| Language skills | Absent | Absent | Rudimentary | Absent | Rudimentary | Delayed | Poor | Poor | Absent | Absent |
| ID | + | + | + | + | + | + | + | + | + | + |
| Degree of ID | ++ | ++ | ++ | ++ | +/− | + | ++ | + | ++ | ++ |
| Age first notice of delay (months) | 0–12 | 0–12 | 0–12 | 0–12 | ? | ? | ? | 36 | 0–12 | 3 |
| Autistic behaviour | + | + | + | + | + | − | + | − | − | + |
| Other neurobehavioural problems | Self-biting hyperactive | Aggressive anxiety | − | − | + | Hyperactive attention-deficit | Aggressive, attention-deficit, hyperactive | Hyperactive | − | − |
| Seizures | − | + | + | + | − | − | + | + | − | − |
| Syndrome diagnosis | Lennox–Gastaut | |||||||||
| Neurological exam | Hypotonia | Spastic quadriplegia | Axial hypotonia, lower limb spasticity | Hypotonia, lower limb spasticity | Normal | Normal | Normal | Normal | Hypotonia | Hypotonia |
| Growth retardation, prenatal | − | − | − | − | − | − | − | − | − | − |
| Growth retardation, postnatal | + | + | + | + | − | − | − | − | + | + |
| Obesity | − | − | − | − | − | − | + | + | − | − |
| Microcephaly | + | − | + | + | − | − | − | − | − | + |
| Dysmorphisms | + | + | + | + | − | − | − | ? | + | + |
| Joint laxity | − | − | − | − | − | − | − | ? | − | − |
| Hypotonia | + | + | + | + | − | − | − | ? | + | + |
| Additional medical problems | GER | GER, gastric ulcer | GER | GER gastrostomy | − | Bulimia | GER | Bulimia | GER | Nephrotic syndrome, central hypothyroidism |
| MRI brain | Small brain, mild enlargement of sulci in frontal lobes | Moderate brain atrophy | ? | ? | Normal | Normal | Normal | ? | Normal | Normal |
If features are not described in the original article, we assume they are not present. Note that more details on the female phenotypes were available in some cases.
−, absent; +/−, mild; +, moderate; ++, severe; ?, unknown. GER, gastroeosophageal reflux; ID, intellectual disability; IDDM, insulin-dependent diabetes mellitus; n.a., not applicable; PFO, patent foramen ovale; XCI, X-chromosome inactivation.