Table 2 Medical information
Family | ||||||
|---|---|---|---|---|---|---|
Family 1 | Family 2 | |||||
Ethnicity | Roma (Polish) | Arab (Saudi) | ||||
COPB1 variant | NM_016451.4:c.957+1G>T (homozygous) GRCh37:g.14504577C>A | NM_016451.4: c.1651T>G p.(Phe551Val) (homozygous) GRCh37:g.14496127A>C | ||||
Patient ID | IV2 | IV3 | IV7 | IV8 | IV9 | IV4 |
Eye disease | Unilateral nuclear sclerotic cataract noted at 13y with dense amblyopia Divergent squint | Bilateral cataracts noted age 7y, lens aspiration and intraocular implants at age 8y | Developed cataracts | Developed cataracts | Developed cataracts, intraocular lens in place | Developed cataracts |
Endocrine/metabolic disease | Hirsutism, axillary acanthosis, early menarche age 9y Raised BMI | Hirsutism, insulin resistance, axillary acanthosis Raised BMI | ||||
Neurological symptoms | Focal seizures at age 14y, EEG normal, treated with levetiracetam | Spasticity | Spasticity, mostly upper limbs | Spasticity Dystonia | Spasticity | |
Brain imaging | Normal | Mild generalised atrophy | Normal | |||
Immune disorders | No | No | Yes | Yes | Yes | Yes |
Dysmorphic features | Up-slanting palpebral fissures, high narrow palate, tapering fingers | Up-slanting palpebral fissures, high narrow palate, tapering fingers | Not available | Not available | Not available | Not available |
Skin | Large café au lait, striae distensae | Benign nodular prurigo, striae distensae | ||||
Other medical problems | Pes planus Kyphosis and mild scoliosis Migraine | Plano valgus foot deformity Kyphosis | ||||