Table 1.
Clinical features of reported patients
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | ||
|---|---|---|---|---|---|
| DECIPHER ID | 259410 | 263897 | 265149 | Hamden et al | |
| Variant | c.167_170delACAG p.(Arg57Leufs*10) | c.167_170delACAG p.(Arg57Leufs*10) | c.459_460delCA p.(Lys154ArgfsTer6) | c.699_701delCTT p.(Tyr233*) | |
| Mechanism | Frameshift | Frameshift | Frameshift | Deletion resulting in creation of a premature stop codon | |
| Sex | Female | Male | Male | Male | |
| Age at diagnosis | 10 years | 17 years | 15 years | 12 years | |
| ID | Moderate (attends special school) | Moderate (attends special school) | Moderate (attends mainstream and special schools) | Moderate | |
| Growth percentile at birth [z score] | Weight | 12 [−1.202] | 5 [−1.603] | 79 [0.790] | 37 [−0.341] |
| Head | 14 [−1.084] | not known | 96 [1.798] | 1 [−2.505] | |
| Growth percentile: | At 5 years: | At 5 years 8 months: | At 9 years: | At 9 years: | |
| Postnatal [z score] | Weight | 47 [−0.082] | Not known | 82 [0.927] | 2 [−2.052] |
| Height | 13 [−1.131] | Not known | 71 [0.538] | 2 [−2.066] < 0.4[−3.896] | |
| Head | 23 [−0.738] | 5 [−1.663] | 80 [0.834] | ||
| At 16 years 3 months: | |||||
| Weight | 82 [0.906] | ||||
| Height | 2 [−2.260] | ||||
| Age of walking | 2 years 9 months | 3 years | 2 years 1 month | 27 months | |
| Speech | Only single words at 2 yr 6 m | First words at 3-4 yrs | First words at 24 m | First words around 4 yr 20 words at 9 yr | |
| Behaviour | No issues | Temper tantrums hyperphagia Autism | Mild anxiety | Attention deficit without hyperactivity | |
| Tone | Normal | Hypotonia as young child | Borderline low tone | Normal | |
| Skeletal | Mild positional talipes | 2–3 toe syndactyly | Short 5th fingers | Nil | |
| joint laxity | Joint laxity | Clinodactyly | |||
| lumbar lordosis | Narrow shoulders | Joint laxity square finger tips | |||
| Facial features | Depressed nasal bridge synophrys | Broad nasal base | Broad/prominent forehead | Not described | |
| Anteverted nares | Bi-frontal narrowing | ||||
| Smooth upper lips | Hypertelorism | ||||
| Widely spaced teeth | Striking blue eyes | ||||
| Mild occipital plagiocephaly | Thick lower lip vermillion | ||||
| Other | Hypertrichosis | Strabismus | Strabismus | Unilateral renal agenesis on fetal ultrasound | |
| Mild lower abdominal obesity | Low right tracheal bronchus Schizophrenia (15 years) | Pigmented area with leathery texture over thoracic/lumbar spine | |||