Clinical description of female cases presented carrying KIAA2022 mutations
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | Ref. 9 | Ref. 10 | Ref. 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (years) | 26 | 9 | 25 | 11 | 36 | 2,5 | 9 | 18 | 5,5 | 2,3 | 53 | 11 | 51 (deceased) | 8,5 | 26 | 13 | 17 |
| Mutation | c.4185del p.Lys 1396fs | c.438 C>A p.Cys 146* | c.2042del p.Gly 681fs | c.964C>T p.Arg322* | c.2201_2202 delAA p.Lys734 Serfs*24 | c.1441 C>T p.Arg481* | c.3053-3066del14 p.Gly1018 Aspfs*2 | del exon1 | c.1582delA p.Arg 528Glufs*4 | c.1882 C>T p.Arg 628* | c.2725del p.Ala909Profs*13 | c.652C>T p.Arg218* | c.952C>T p.Gln318* | c.3596_3597 insA p.Lys 1199Asnfs | 46,X,t(X;3) (q13;q11) | c.1882C>T p.Arg628* | c.964C>T p.R322* |
| XCI | 57:43 (random) | 70:30 (random) | 52:48 (random) | 63:37 (random) | 100% skewing | 62:38 (random) | 64:36 (random) | 100% skewing | 65:35 (random) | 73:27 (borderline skewed) | |||||||
| KIAA2022 expression (ratio) | 0.000624456 | 0.00029598 | 0.000355424 | 0.000256076 | Absent | Absent | |||||||||||
| Walking age (months) | 24 | 18 | 19 | 15 | 14,5 | − | 12 | 24 | 14 | 19 | 12 | 15 | 24 | 18 | ? | ? | 12–18 |
| Language skills | Sentences | Sentences | Sentences | Sentences | Sentences | Absent | Full sentences | Absent | 150 words | 5 words | Normal | Two-word phrases | Single simple words, no sentences | Simple sentences | Absent | ? | Two words |
| ID | + | + | + | + | + | + | + | + | + | + | − | + | + | + | + | + | + |
| Degree of ID | + | + | +/− | + | + to ++ | + | +/− to + | + to ++ | + | +/− | − | + | ++ | + | ++ | +/− | ++ |
| Age at first notice of delay (months) | 18 | 8 | From birth | 30 | 12–24 | 3 | 35 | 15 | 12–18 | 7 | − | <20 | 12–24 | 12–18 | ? | ? | 18 |
| Autistic behaviour | + | + | − | + | − | − | + | + | − | − | − | + | − | − | + | ? | + |
| Other neurobehavioural problems | − | Aggression hyperactive | Tantrums hyperactive | ADHD | Attention-deficit hyperactive | − | + | Tantrums hyper-active | Hyperactive, impulse control difficulties | − | − | Severe ADHD, impulse control disorder | − | Opposition | − | ? | Repetitive behaviours, aggression, hyperactive |
| Seizures | + | + | + | + | + | − | + | + | + | − | + | + | + | + | − | − | + |
| Neurological examination | Normal | Normal | Normal | Normal | Normal | Hypotonia | Normal | Normal | Normal tone ataxic gait | Normal | Normal | Hypotonic, broad-based gate | Normal | Normal | ? | ? | Normal |
| Growth retardation, prenatal | − | − | − | <−2SD | − | −2 SD | − | − | − | − | − | − | − | − | p3–p10 | ? | − |
| Growth retardation, postnatal | − | − | − | − | − | + | − | − | − | − | − | − | + | − | + | − | + |
| Obesity | + | + | + | − | − | − | − | + | − | − | − | − | + | − | − | ? | − |
| Microcephaly | − | − | − | − | − | + | − | − | − | − | − | − | − | − | + | ? | + |
| Dysmorphisms | − | + | − | − | − | + | − | − | − | − | − | − | + | − | + | − | + |
| Joint laxity | + | − | − | − | − | − | − | − | − | + | − | − | − | + | − | ? | |
| Hypotonia | − | − | − | − | − | + | Very mild | − | − | + | − | + | − | Mild | − | ? | − |
| Additional medical problems | Hip dysplasia | GER | Neonatal feeding difficulties | − | − | GER | − | − | Otitis media, PFO | − | IDDM, horse-shoe kidney | Cardiac rhabdo-myoma, TSC 1 and 2 negative | − | Pulmonary stenosis | Primary amenorrhoea, hyperglycaemia | ? | − |
| MRI brain | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | ? | Normal | Normal | Frontal atrophy (3 years) | Morphological alterations of temporal lobes | ? | Status after corpus callosotomy surgery |
?, unknown.
ADHD, attention deficit hyperactivity disorder; GER, gastroeosophageal reflux; ID, intellectual disability; TSC, tuberous sclerosis complex; XCI, X-chromosome inactivation.