Table 1.
Summary of clinical features of patients with DOCK3 mutations.
| Patient | DOCK3 Variant | Reference | Sex | Age at Evaluation | Birth History | Family History | Developmental Milestones | Growth (%) | Dysmorphic Features | Congenital Anomalies | Studies Prior to Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | del3:50789040- 51247265/c.382C>T | [10] | F | 12 years | Born at 42 weeks gestation | Similarly affected sibling | Severe Developmental Delay, walked at 5 years, unstable crouched, ataxic gait, non- verbal, and not toilet trained at 12y |
WT = 25; Ht = 15; HC = 75 |
Prominent chin, high arched palate, malocclusion, long fingers |
None | Normal metabolic screen, EEG, BEAR, brain MRI |
| P2 | del3:50789040- 51247265/c.382C>T | [10] | M | 11 years | Born at 41 weeks gestation | Similarly affected sibling | Walked at 2.5 years, first word at 4 years, single words at TOE, unstable, ataxic gait | Wt = 40; Ht = 8; HC = 30 | Pointed chin, down slanting palpebral fissures, long face | None | None |
| P3 | homozygous del. 3:51,062,402–51,232,768 | [12] | M | 28 months | NR | Parents are first cousins | Started sitting at 14 months, walked at 22 months, unsteady gait, few specific words at TOE, Bayley score <50 (at TOE) | Wt = 4; Ht = 5; HC = 14 | Epicanthal folds, up-turned nasal tip, prominent cheeks | None | Brain MRI-dysmorphic Corpus Callosum, ECHO-normal |
| P4 | c.1038-2A>G:IVS12- 2A>G/c.3107_3110delACTT | [13] | M | 5 years | Born at 37 weeks gestation | Unremarkable | Started walking at 36 months, 5-10 single words at 5 | Wt ≥ 99; Ht = 66; HC = 85 | Broad forehead, deep set, hooded eyes | TE fistula with esophageal atresia, vertebral anomalies, rib anomalies, single kidney |
Negative microarray, brain MRI- shallow sulci, hypoplastic white matter, spine MRI-syrinx, abnormal EEG |
| P5 | c.1175G>A/c.3887A>G | [13] | M | 5.5 years | Full term | Unremarkable | Was able to sit at 30 months, walked at 48 months, non-verbal, autism, unprovoked laughter, hypotonia | Wt = 50; Ht = 25; HC = 7 | Brachicephaly, plagiocephaly, prominent philtrum | Phimosis | Brain MRI-diminished white matter, hypoplastic CC, negative macroarray, UBE3A, MECP2, meth-Angelman |
| P6 | c.5020A>T/5020A>T | [13] | F | 3 years | born at 35 weeks gestation, feeding difficulties | NR | Walked at 18 months, and said the first word at 15 months, but then lost her speech, autism | Wt ≥ 99; Ht ≥ 99; HC ≥ 99 | Macrocephaly, frontal bossing | Spina bifida | Brain MRI-resolved Chiari malformation, negative CMA, PTEN, FXS |