Table 1 Growth and development
Family | ||||||
|---|---|---|---|---|---|---|
Family 1 | Family 2 | |||||
Ethnicity | Roma (Polish) | Arab (Saudi) | ||||
COPB1 variant | NM_016451.4: c957+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 |
Sex | F | F | F | F | F | F |
Age at physical assessment | 14y | 16y | 15y | 15y | 11y | 7y |
OFC | − 2.6 SD | − 3.2 SD | − 2 SD | − 0.2 SD | − 7.9 SD | − 4.4 SD |
Weight | + 2.4 SD | + 2.8 SD | − 3.1 SD | − 2.8 SD | − 3.9 SD | − 3.2 SD |
Height | − 0.1 SD | − 1.9 SD | − 1.8 SD | − 1.2 SD | + 0.6SD | − 2.2 SD |
Neonatal issues | Hypotonia, torticollis | Hypotonia | Unknown | Unknown | Unknown | Unknown |
Other genetic findings | Normal microcephaly and cataract panels Balanced 12;13 insertional translocation | Normal microcephaly and cataract panels Unbalanced 12;13 insertional translocation (761 Kb duplication of 13q13.3) Homozygous for GJB2 c.71G>A | Normal immunodeficiency gene panel | Normal immunodeficiency gene panel | Normal immunodeficiency gene panel | Normal immuno-deficiency gene panel Normal array CGH |
Early development | Smiled at 13m Sat at m Walking at 5y First words 3y | Smiled at 13m Sat at 12m Walking at 4y | Early milestones not available Cannot walk | Early milestones not available Cannot walk | Early milestones not available Cannot walk | Early milestones not available Cannot walk |
Age at last developmental assessment | 18y | 16y | 17y | 15y | 11y | 11y |
Intellectual disability | Severe | Severe | Severe | Severe | Severe | Severe |
Language and hearing | Short phrases (unclear language) Follows simple instructions | GJB2-associated deafness No speech Difficulty expressing needs | No speech | Language “fair” | No speech | Limited speech |
Gross motor | Can go up stairs Cannot climb | Difficulty on stairs Poor balance | Uses wheelchair | Uses wheelchair | Unable to sit or stand | Unable to sit or stand |
Social development and behaviour | Unable to perform self-care Poor safety awareness Intermittent incontinence (mostly urinary) | Unable to perform self-care Incontinent of urine and faeces | Fully dependant | Fully dependant | Fully dependant | Fully dependant |