Table 1.
Summary of Demographic, Genetic, and Clinical Characteristics of the Subject Cohort
| Subject 1 | Subject 2 | Subject 3 | Subject 4 | |
|---|---|---|---|---|
| Gender | male | male | female | female |
| Age | 4 years 8 months | 6 years 8 months | 6 years 0 month | 6 years 10 months |
| Ancestry | Italian | Scottish-Hungarian | French | Scottish |
| SOX4 variant | c.198C>A (p.Phe66Leu) | c.334G>C (p.Ala112Pro) | c.176T>G (p.Ile59Ser) | c.315G>T (p.Lys105Asn) |
| Growth Delay | ||||
| Height | 100.7 cm (10th) | N.D. | 98.6 cm (6th) | 109.7 cm (3rd) |
| Weight | 15.0 kg (8th) | 14.8 kg (1st) [−3.66 SD] | 14.6 kg (9th) | 17 kg (3rd) |
| OFC | 47.6 cm (1st) [−2.5 SD] | 48.3 cm (0.4th) [−2.8 SD] | 50 cm (12th) [−0.65 SD] | 52.3 cm (45th) [−0.1 SD] |
| Speech delay | first words at 4 years | no speech | delayed speech at 3 years | first words at 2 years |
| Walking delay | first steps at 27 months | not ambulant | no delay | first steps at 21 months |
| Intellectual and neurological delay | mild ID (IQ: 68); epilepsy; myelination delay | severe ID; spastic quadriparesis; cerebellar atrophy; patchy changes in cerebral white matter | very mild learning difficulties | learning difficulties requiring educational support (IQ: 52) |
| Facial dysmorphism | microbrachycephaly; epicanthus; stellate iris pattern; short nose; upturned nares; wide mouth with cupid bow; and posteriorly rotated ears | microcephaly; trigonocephaly; metopic ridge; epicanthic folds; infra-orbital folds; and wide mouth with cupid bow | deep-set eyes; infra-orbital grooves; upturned nares; wide mouth with cupid bow and full lips | deep-set eyes; infra-orbital creases; malar flattening, upturned nares; wide mouth with cupid bow, and full lips; and posteriorly rotated ears |
| Hand and foot malformation | bilateral 5th finger clinodactyly | congenital vertical talus; bilateral 5th finger clinodactyly | mild 5th finger clinodactyly; dysplastic 5th toenails | bilateral 5th finger clinodactyly; mild camptodactyly |
| Hypotonia | mild, generalized | truncal hypotonia | not detected | not detected |
| Other abnormal features | ventricular septal defect; feeding difficulties and constipation; strabismus and keratoconus | feeding difficulties; laryngomalacia; delayed secondary dentition | none detected | none detected |
Parentheses indicate percentiles. Brackets indicate standard deviations. N.D., not determined. OFC, occipitofrontal head circumference.