Table 2. The phenotypes and genotypes in our MLIII alpha/beta patients.
| Finding/Patients | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | |
|---|---|---|---|---|---|---|---|---|---|
| General | Gender/Age(years) | F/4 | M/8 | M/11 | F/7 | F/9 | F/7 | M/8 | F/8 |
| Height(cm) | 90 | 128.5 | 139.5 | 110 | 128 | 118 | 118.5 | 122.5 | |
| Weight(kg) | 14.5 | 28 | 27.5 | 20 | 21 | 20 | 27 | 23.5 | |
| Age of oneset | 1y | 4y | 3y | 3y | 3y | 2y | 1y | 6y | |
| Onset of signs | Pectus | Finger stiffness | Finger and knee stiffness | Finger stiffness | Finger and wrist stiffness | Finger stiffness | Finger stiffness | Finger stiffness | |
| Craniofacial | Coarse face | - | - | - | - | - | - | - | - |
| Corneal clouding | - | - | - | - | - | - | - | - | |
| Gingival hyperplasia | - | - | - | - | - | - | - | - | |
| Skeletal | Claw hand | + | + | + | + | + | + | + | + |
| Pectus | + | - | - | - | - | - | - | - | |
| Joint stiffness | H,S,K | H,E,S | H,W,E,S,K | H,E,S | H,W,E,S | H,S | H,S | H,W,E,S,K | |
| Vertebral scoliosis | + | - | - | - | - | - | + | + | |
| Unaided walking | + | + | + | + | + | + | + | + | |
| Abdomen | Hepatomegaly | - | - | - | - | - | - | - | - |
| Splenomegaly | - | - | - | - | - | - | - | - | |
| Inguinal hernia | - | - | - | - | - | - | - | - | |
| Speech | Speak single words | + | + | + | + | + | + | + | + |
| Cardiovascular (echocardiacography) | Mitral | N | prolapse, regurgitation | thickening | N | prolapse, regurgitation | regurgitation | N | regurgitation |
| Tricuspid | N | N | prolapse | N | N | regurgitation | N | N | |
| Aortic | N | N | thickening | N | N | N | thickening | thickening | |
| Left Atrial | N | N | N | N | enlargement | enlargement | N | enlargement | |
| Left Ventricular | N | N | N | N | N | N | N | hypertrophy | |
| Family history | Consanguineous parents | - | - | - | - | - | - | - | - |
| Affected sibling | - | - | - | - | - | 1 brother | - | 1 brother | |
| Activity of GlcNAc-1-phosphotransferase (plasma) | β-D-glucuronidase (10.7–33.7nmol/h/ml) | 823.6 | 684.8 | 750.4 | 899.6 | 714.9 | 729.4 | 858.1 | 726.7 |
| α-D-mannosidase (13.7–66.7nmol/h/ml) | 894.7 | 816.3 | 900.8 | 934.6 | 894.8 | 916.2 | 1143.8 | 904.7 | |
| GNPTAB mutation | c.1090C>T (p.R364X) | c.2715+1G>A | c.1090C>T (p.R364X) | c.525_526del AAinsG (p.K175Kfs12X) | c.118-1G>A | c.2345C>T (p.S782F) | c.2455G>T (p.E819X) | c.2356C>T (p.Q786X) | |
| c.2345C>T (p.S782F) | c.3136-2A>G | c.2345C>T (p.S782F) | c.2715+1G>A | c.2715+1G>A | c.2715+1G>A | c.2715+1G>A | c.2715+1G>A |