Table 1.
Overview of Phenotypic and Genetic Findings in PEX11B Cases
| Family | (Ebberink et al.10) | I | II | III | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient (age [sex]) | 1 (26 y [M]) | I.1 (23 y [F]) | I.2 (6 y 6 mo [M]) | II.1 (6 y 3 mo [F]) | III.1 (2 y 11 mo [M]) | III.2 | ||||||||
| Ethnicity (consanguinity) | Dutch (No) | South Asian (Yes) | South Asian (Yes) | Caucasian (No) | ||||||||||
| Pregnancy (birth weight) | Normal (3.5 kg) | Normal | Normal | IUGR and pre-eclampsia (2.3 kg) | Normal (2.535 kg) | Normal (2.35 kg) | ||||||||
| Bilateral congenital cataract | + | + | + | + | + | + | ||||||||
| Eyes (other) | Nystagmus, photophobia† | Nystagmus, nonreactive pupils, divergent strabismus | Microphthalmia, aphakic glaucoma, B/L phthisis | Aphakic glaucoma | – | – | ||||||||
| Skeletal | ||||||||||||||
| Hands/feet | – | Cone-shaped epiphyses, hallux-valgus | “knobbly” fingers, hallux-valgus | Small hands, short distal phalanges, proximally rotated thumbs, talipes | – | – | ||||||||
| Other | – | FCD of tibia, narrow thorax, sloped ribs, joint laxity | – | Short limbs, scoliosis | – | – | ||||||||
| Skin | Dry; scaly hands and feet | Very dry, severe eczema | Very dry, severe eczema | Dry | – | – | ||||||||
| Hair | – | Sparse | – | Sparse | Medially sparse eyebrows | – | ||||||||
| Gastrointestinal | + | + | + | + | – | – | ||||||||
| Development | ||||||||||||||
| Measurements | ||||||||||||||
| Age | – | 5 y | 12 y | 18.5 y | 7.5 y | 17.5 y | 21 y | 2 y 3 mo | 4.5 y | 6 y 3 mo | 1 y 8 mo | 2 y 11 mo | 1 y 11 mo | 7.5 y |
| Height | n.d. | 90.5 cm | 127.6 cm | 134 cm | 88 cm | 118.8 cm | 127 cm | 78 cm | 90 cm | 105 cm | 81.3 cm | 84 cm | 75.4 cm | 111.4 cm |
| Weight | n.d. | 12 kg | 29 kg | 37.6 kg | 13 kg | 23.3 kg | 26.3 kg | 9.14 kg | n.d. | 20.7 kg | 11.4 kg | 13.2 kg | 10.2 kg | 18.1 kg |
| OFC | n.d. | n.d. | n.d. | 45 cm | 47 cm | 54 cm | 47.2 cm | 48.5 cm | 45.4 cm | n.d. | ||||
| Milestones | ||||||||||||||
| Sit/crawl | n.d. | n.d. | 1 y | 2 y | n.d. | n.d. | ||||||||
| Walk | 1.5 y* | n.d. | 2 y* | – | 1 y 4 mo | n.d. | ||||||||
| Speech | n.d.* | n.d. | 2 y (babbling)* | 2 y | 1 y 6 mo | n.d. | ||||||||
| Intellectual disability | + | + | + | + | + | + | ||||||||
| Dysmorphism | – | Lateral flare to eyebrows, prominent teeth, high arched palate | Lateral flare to eyebrows | Large fontanelle, short forehead, broad nasal bridge, small mandible | High forehead, broad nasal bridge, epicanthus, upslanting palpebral fissures | – | ||||||||
| Other | – | In-toeing gait attributable to tibial torsion | Abnormal gait | Truncal obesity | – | small, dysplastic nails | ||||||||
| Neurologic | ||||||||||||||
| Tone | n.d. | n.d. | n.d. | Hypotonia | Hypotonia | n.d. | ||||||||
| Muscular strength | ||||||||||||||
| Upper | Normal | Normal | Reduced | Reduced | n.d. | n.d. | ||||||||
| Lower | Reduced | Normal | Reduced | Reduced | n.d. | n.d. | ||||||||
| Reflexes | ||||||||||||||
| Upper | Reduced | Reduced | n.d. | Increased | n.d. | n.d. | ||||||||
| Lower | Absent | Reduced | n.d. | Increased | n.d. | n.d. | ||||||||
| Hearing | B/L perceptive hearing loss | – | B/L sensorineural hearing loss | – | Conductive hearing loss | – | ||||||||
| Seizures | – | – | – | – | + | – | ||||||||
| Sensory disturbance | + | – | – | – | + | – | ||||||||
| MRI | Chiari malformation type I | Not performed | Normal | Normal | Normal | Normal | ||||||||
| Other | Behavioral problems, slow to recover from illness, episodes of regression following trauma, reduced muscle bulk | Limb spasticity, feeding difficult to establish, behavioral problems | Behavioral problems, short attention span | |||||||||||
FCD, fibrous cortical defect; n.d.: not disclosed; +, present; –, absent.
*
Regression after stressful episodes/surgery.
†
Photophobia occurred as part of migraine-like episodes.