Table 1.
Molecular and Clinical Characterization for Three Individuals with Pathogenic Variants in FUT8
| Gender |
CDG – 0448 |
CDG – 0459 |
CDG – 0464 |
|---|---|---|---|
| Female | Female | Male | |
| Year of birth (or Age) | 2014 | 2014 | 2010 |
| Family History | No | No | Yes, deceased older brother |
| Consanguinity | Yes, 2nd cousin | No | Yes, 1st cousin |
| Ancestry | Irish, Italian, Native American | Irish-Norwegian / Irish-Ukrainian-Belgian | Arab |
| FUT8 pathogenic variants | c.715C>T (p.Arg239∗) | c.1009C>G (p.Arg337Gly) c.1259+5 G>T (N/A) |
c.943C>T (p.Arg315∗) |
| Pregnancy complications | polyhydramnios | polyhydramnios | Normal |
| IUGR | Yes (< 2nd Percentile) | Yes (3rd Percentile) | Yes (3rd percentile) |
| Feeding problems | Yes | Yes | Yes |
| Failure to thrive | Yes - Severe | Yes - Severe | Yes - Severe |
| Developmental delay | Yes - Severe | Yes - Severe | Yes - Severe |
| Dysmorphic features | High Palate, edematous eyelids and nasal bridge, wide nasal bridge, retrognathia | Buphthalmos, high broad forehead, mild lymphedema of hands and feet | Bitemporal narrowing, hirsutism, exotropia, exophthalmos, short nose, enlarged left eye with macrocornea |
| Microcephaly | Yes, 33 months < 1st percentile | Yes, 31 months < 10th percentile | Yes, 36 months < 3rd percentile |
| Intellectual disability | Yes | Yes | Yes |
| Seizures/epilepsy | Yes | Yes | Yes |
| Hypotonia | Yes | Yes | Central with peripheral spasticity |
| Skeletal abnormalities | Short stature | Short stature | Short stature, multiple contracture, severe osteopenia, dislocated hips, kyphoscoliosis |
| Cardiac abnormalities | Atrial septal defect, repaired Patent Ductus Arteriosus ligation | Not reported, normal echocardiogram | None |
| Liver abnormalities | No | No | No |
| Renal abnormalities | Nephrocalcinosis | No | No |
| Respiratory abnormalities | Tracheostomy | Reactive airway disease | Recurrent bronchopneumonia |
| Gastrointestinal abnormalities | G-tube placement | G-tube placement | Feeding difficulties with GE reflux |
| Endocrine abnormalities | Hypothyroidism | Not reported | None |
| Ocular abnormalities | No | Congenital glaucoma | No |