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Table 2 Medical information

From: Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

  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
    
  1. 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