Table 1.
Summary of clinical features in all reported patients with biallelic B3GAT3 mutations
| Previously reported patients | New patients | Totalc | |||||||
|---|---|---|---|---|---|---|---|---|---|
| c.830G > A [32, 38] | c.419C > T [35] | c.1A > G + c.671 T > A [36] | c.245C > T [33] | c.667G > A [37, 39] | Het. c.888 + 262 T > G [34] | 1. c.667G > A | 2. c.416C > T | ||
| N° of patients | 6 | 8 | 1 | 1 | 7 | 1 | 1 | 1 | 26 |
| Short stature | 6/6 (>p3) | 8/8 (>P3) | 0/1 | 1/1 | 1/4 (NR in 3) | 1/1 | Yes | Yes | 19/23 (83%) |
| Skeletal dysplasiaa | 6/6 | 8/8 | 1/1 | 1/1 | 7/7 | 1/1 | Yes | Yes | 26/26 (100%) |
| Joint hypermobility | 6/6 | 0/8 | 1/1 | NR | 0/1 (NR in 6) | 1/1 | Yes | Yes | 10/19 (53%) |
| Joint dislocations | 6/6 (elbow, shoulders, radioulnar, hip) | 8/8 (elbow, shoulder) | 1/1 (left hip) | NR | 3/7 | 0/1 | No | Yes | 18/25 (72%) |
| Fractures | NR | NR | 1/1 (multiple fractures of femur and tibia) | 1/1 | 5/6 | 0/1 | Yes | No | 8/12 (67%) |
| Joint contractures | 5/6 (elbow) | 4/8 (elbow) | NR | NR | 7/7 | NR | Yes | No | 11/16 (69%) |
| Facial dysmorphologyb | 6/6 | 8/8 | 1/1 | NR | 6/7 | 1/1 | Yes | Yes | 25/25 (100%) |
| Cardiovascular involvement | 6/6 (bicuspid aortic valve, aortic root dilatation, mitral valve prolapse, ASD, VSD) | 0/3 (Not investigated in 5) | 1/1 (PFO, bicuspid aortic valve, diltation of aortic root and ascendig aorta) | NR | 4/7 (ASD, VSD, patent ductus arteriosus) | 1/1 (VSD, pulmonary stenosis) | No | NI | 12/20 (60%) |
| Intellectual disability | 1/6 | 0/5 | 1/1 | NR | 1 (NR in 6) | NR | – | No | 2/14 (14%) |
| Ocular involvement | 1/1 (hyperopia, esotropia, amblyopia) | NR | 1/1 (hyperopia, astigmatism, amblyopia and left ptosis) | NR | 1 with bilateral glaucoma (NR in 6) | NR | Yes (Corneal clouding) | No | 4 |
| Blue sclerae | NR | NR | 1/1 | NR | 1 (NR in 6) | NR | Yes | Yes | 4 |
| Spatulate phalanges | 6/6 | 8/8 | NR | NR | 1 (NR in 6) | NR | Yes | Yes | 16/17 (94%) |
| Hyperextensible skin | 0/1 (NR in 5) | NR | 1/1 | NR | 0/7 | NR | No | No | 1 |
| Cutis laxa | NR | NR | NR | 1/1 | NR | NR | Yes | No | 2 |
| Hearing loss | NR | NR | NR | NR | 1 with bilateral conductive (NR in 6) | 1/1 (sensorineural) | NI | No | 2 |
| Aditional features | Excessive wrinkling of the skin in 1 | Restrictive lung disease due to scoliosis + macrocepahly + hypoglycemia + hypothyroidism | Multiple bony chondroma | 6 patients died before the age of 1 year | Posterior cloaca + ketotic hypoglycemia + GH deficiency | Died before the age of 1 year | |||
NR Not Reported, NI Not Investigated
a Skeletal dysplasia including shortening and bowing of long bones, severe (kypho)scoliosis, foot deformity and radioulnar synostosis
b Facial dysmorhpology including abnormalities in cephalic index (brachycephaly and dolichocephaly), frontal bossing, hypertolerism, prominent eyes, downslanting palpebral fissures, midfacial hypoplasia, depressed nasal bridges, microstomia and short neck
c Total based on the reported frequency