Table 1.
Clinical Characteristics of Individuals with Transketolase Deficiency
|
Family 1 |
Family 2 |
Family 3 |
|||
|---|---|---|---|---|---|
| II.1 | II.2 | II.1 | II.2 | II.1 | |
| Mutations in TKT | c.633G>A, p.Trp211Ter and c.952C >T, p.Arg318Cys | c.633G>A, p.Trp211Ter and c.952C>T, p.Arg318Cys | c.769_770ins18, p.Trp257delinsSerThrSerLeuSerSerGly | c.769_770ins18, p.Trp257delinsSerThrSerLeuSerSerGly | c.769_770ins18, p.Trp257delinsSerThrSerLeuSerSerGly |
| Ancestry | European | European | Russian, Ashkenazi Jewish | Russian, Ashkenazi Jewish | Ashkenazi Jewish |
| Sex | F | F | F | M | F |
| Current age (years) | 8 | 5 | 20 | 11 | 24 |
| Developmental delay and/or intellectual disability | + (FSIQ = 87, VIQ = 86) | + | + | + | + (FSIQ = 75) |
| Speech and language | delayed speech and language | delayed speech | non-verbal | non-verbal | delayed speech |
| Short stature | + | + | + | + | + |
| CHD | anomalous coronary artery | VSD, ASD | VSD, PFO, PDA | 2 VSDs | ASD, VSD |
| Hypotonia | low oral motor tone in infancy | − | − | + | + |
| Ophthalmic findings | − | − | bilateral cataracts, severe blepharoconjunctuvitis, uveitis | − | bilateral cataracts, strabismus, anterior uveitis |
| Psychiatric | ADHD | − | stereotypic behavior, self-injurious behavior, OCD | − | ADHD, OCD |
| Additional phenotypes | mild hearing loss | − | loose stools | loose stools, sebhorrheic dermatitis | insulin dependent diabetes, pancreatic exocrine dysfunction, hepatomegaly, kidney cysts, secondary amenorrhea |
CHD, congenital heart disease; VSD, ventricular septal defect; ASD, atrial septal defect; PDA, patent ductus arteriosus; PFO, patent foramen ovale; ADHD, attention deficit hyperactivity disorder; OCD, obsessive compulsive disorder; FSIQ, full scale intelligence quotient; VIQ, verbal intelligence quotient; +, present; −, absent.