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

All subjects from Family 1 and Family 2 developed cataracts. Subjects from Family 1 developed a metabolic syndrome with obesity, hirsutism and insulin resistance or diabetes. Though no major abnormalities were identified on brain imaging, some individuals have neurological symptoms with seizures in one participant (Family 1) and spasticity being present in Family 2. Family 2 also have an immunodeficiency with lymphopenia and inadequate antibody response titres