Table 1.
Phenotypes and genotypes of 38 Eastern Chinese individuals with mucolipidosis II/III
| P | ML type | Gender | Age of onset | Age at diagnosis | First symptom | Defected gene | Genotypes | Amino acid changes | Location | α-mannosidase activity | Hex A+B activity |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | II α/β | M | 6 m | 7 m | The lower-limb exercise less | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E15 | 475 | 16,107 |
| c.2990A>G* | p.Y997C* | ||||||||||
| 2 | II α/β | F | NK | 20 m | ND | GNPTAB | c.2473_2474insA* | p.T825NfsX37* | E13+E13 | 503.5 | 17,116 |
| (Homozygous) | +p.T825NfsX37* | ||||||||||
| 3 | II α/β | M | 1 y | 4 y 11 m | Short stature, mental retardation, walking instability | GNPTAB | c.88_89delAC*+c.835G>T* | p.T30HfsX24*+p.E279X* | E1+E8 | 466.8 | 13,782 |
| 4 | II α/β | M | 1 y 6 m | 3 y | The finger joint stiff | GNPTAB | c.100G>C*+ | p.A34P*+ | E1+E2 | 422 | 14,945 |
| c.136C>T | p.R46X | ||||||||||
| 5 | II α/β | F | 3 m | 6 m | Knee joint stiffness | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E15 | 499.6 | 18,153 |
| c.3091C>T | p.R1031X | ||||||||||
| 6 | II α/β | M | NK | 9 m | Coarse facial features | GNPTAB | c.99delC+ | p.A34PfsX49+ | E1+E13 | 390.4 | 13,735 |
| c.2533C>T | p.Q845X | ||||||||||
| 7 | II α/β | F | After birth | 7 m | Growth retardation, mental retardation | GNPTAB | c.136C>T+ | p.R46X+ | E2+E9 | 405.9 | 12,366 |
| c.1090C>T | p.R364X | ||||||||||
| 8 | II α/β | M | 8 m | 16 m | Pneumonia | GNPTAB | c.1000C>T+ | p.R334X+ | E9+E9 | 418.2 | 11,280 |
| del E9* | del E9* | ||||||||||
| 9 | II α/β | M | After birth | 4 y 2 m | Skeletal malformation | GNPTAB | c.1120T>C+ | p.F374L+ | E10+E12 | 248.9 | 15,513 |
| c.1600G>A* | p.D534N* | ||||||||||
| 10 | II α/β | F | NK | 1 y | ND | GNPTAB | c.3136-2A>G+ | IVS15-2A>G+ | IVS15+IVS15 | 541.2 | 13,273 |
| (Homozygous) | IVS15-2A>G | ||||||||||
| 11 | II α/β | M | 6 m | 3 y 5 m | Developmental retardation | GNPTAB | c.3094delA*+ | p.T1032HfsX11*+ | E15+E15 | 464 | 17,215 |
| c.3098T>C* | p.L1033P* | ||||||||||
| 12 | II α/β | F | NK | 15 m | Bone disease | GNPTAB | c.1090C>T | p.R364X+ | E9+E9 | 416.3 | 11,754 |
| (Homozygous) | p.R364X | ||||||||||
| 13 | II α/β | F | After birth | 14 m | Weak cry, eating less | GNPTAB | c.2404C>T*+ | p.Q802X*+ | E13+E13 | 284.2 | 13,772 |
| c.2455G>T | p.E819X | ||||||||||
| 14 | II α/β | M | NK | 3 y | Backward development | GNPTAB | c.2404C>T*+ | p.Q802X*+ | E13+E13 | 428.1 | 13,049 |
| c.2644C>T* | p.Q882X* | ||||||||||
| 15 | II α/β | F | 4 m | 4 y | Coarse facial features | GNPTAB | c.1001G>C*+ | p.R334P*+ | E9+E19 | 520.7 | 18,701 |
| c.3565C>T | p.R1189X | ||||||||||
| 16 | II α/β | M | NK | 9 m | Developmental retardation | GNPTAB | c.2455G>T+ | p.E819X+ | E13+E20 | 310.8 | 12,410 |
| c.3613C>T | p.R1205X | ||||||||||
| 17 | II α/β | M | NK | 20 m | Slow growth, mental retardation | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E13 | 484.6 | 13,706 |
| c.2533C>T | p.Q845X | ||||||||||
| 18 | II α/β | F | NK | 4 y | Short stature, skeletal deformity | GNPTAB | c.835G>T*+ | p.E279X*+ | E8+E9 | 511 | 18,082 |
| c.1090C>T | p.R364X | ||||||||||
| 19 | II α/β | M | NK | 6 m | Developmental retardation, scoliosis | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E19 | 419 | 17,370 |
| c.3565C>T | p.R1189X | ||||||||||
| 20 | II α/β | M | 8 m | 3 y | Coarse facial features, skeletal deformity | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E10 | 512.7 | 11,143 |
| c.1222G>A* | p.D408N* | ||||||||||
| 21 | II α/β | F | After birth | 9 m | Coarse facial features, mental retardation | GNPTAB | c.1090C>T | p.R364X+ | E9+E9 | 432 | ND |
| (Homozygous) | p.R364X | ||||||||||
| 22 | II α/β | M | 3 m | 8 m | Developmental retardation | GNPTAB | c.1150_1151insTTA*+ | p.F383_S384insI*+ | E10+E11 | 404.5 | 15,558 |
| c.1389G>A* | p.W463×* | ||||||||||
| 23 | II α/β | M | NK | 5 m | Developmental retardation | GNPTAB | c.1090C>T+ | p.R364X+ | E9+E15 | 399.4 | 18,749 |
| c.3094delA* | p.T1032HfsX11* | ||||||||||
| 24 | II α/β | F | NK | 10 m | Suspected mucopolysaccharide disease | GNPTAB | c.132G>A*+ | p.W44×*+ | E2+E13 | ND | ND |
| c.2693dupA | p.Y899VfsX21 | ||||||||||
| 25 | II α/β | M | NK | 5 m | Long-term neonatal recurrent pneumonia | GNPTAB | c.132G>A*+ | p.W44×*+ | E2+E15 | 317.9 | ND |
| c.3094delA* | p.T1032HfsX11* | ||||||||||
| 26 | II α/β | M | NK | 2 y 6 m | Developmental retardation | GNPTAB | c.1001G>C*+ | p.R334P *+ | E9+E10 | 157.9 | ND |
| c.1247G>A* | W416X* | ||||||||||
| 27 | II α/β | F | NK | 5 y | Coarse facial features, Skeletal dysplasia | GNPTAB | c.648_651delAGAA+ | p. E217Sfs*4+ | E7+IVS15 | ND | ND |
| c.3136-2A>G | IVS15-2A>G | ||||||||||
| 28 | II α/β | F | 6 m | 15 m | Kyphosis, cyclic vomiting | GNPTAB | c.1523delG*+NK | p.G508DfsX39*+NK | E12+NK | 395.1 | 15,252 |
| 29 | II α/β | M | NK | 2 y | Coarse facial features, developmental retardation | GNPTAB | c.1001G>A+NK | p. R334Q+NK | E9+NK | 531.1 | 12,544 |
| 30 | II α/β | F | 3 m | 5 m | Unable to raise head | NK | NK | NK | NK | 359.8 | 13,778 |
| 31 | III α/β | F | NK | 6 y 9 m | ND | GNPTAB | c.2715+1G>A+ | IVS13+1G>A+p. | IVS13+E15 | 486.4 | 16,909 |
| c.2980_2983delGCCT* | A994SfsX8* | ||||||||||
| 32 | III α/β | M | 2 y | 7 y | Back prominent | GNPTAB | c.1090C>T+ | p.R364X+ | E9+IVS13 | 460.9 | 15,414 |
| c.2715+1G>A | IVS13+1G>A | ||||||||||
| 33 | III α/β | F | 4 y | 8y2m | Short, prominent forehead | GNPTAB | c.890_891insT*+ | p.298KfsX16*+ | E8+E15 | 489.5 | 14,478 |
| c.3053A>T* | p.D1018V* | ||||||||||
| 34 | III α/β | M | 6 y | 9y6m | Finger flexion deformity, abnormal heart | GNPTAB | c.2715+1G>A+ | IVS13+1G>A+ | IVS13+E15 | 213.9 | 10,921 |
| c.3094delA* | p.T1032HfsX11* | ||||||||||
| 35 | III α/β | M | NK | 17 y | Skeletal dysplasia | GNPTAB | c.2715+1G>A+ | IVS13+1G>A+ | IVS13+E15 | 471.2 | ND |
| c.3074T>C* | p.L1025S* | ||||||||||
| 36 | III α/β | M | NK | 14 y | Pectus carinatum, finger stiffness | GNPTAB | c.99delC+ND | p. A34PfsX49+NK | E1+NK | 382.6 | 11,346 |
| 37 | III γ | M | NK | 10 y | Abnormal flexion of wrist | GNPTG | c.13delC*+ | p.L5WfsX23*+ | E1+IVS8 | 479.5 | 9622 |
| c. 609+1delG* | IVS8+1deG* | ||||||||||
| 38 | III γ | M | 8 y | 10 y | Scoliosis | GNPTG | c.243T>A*+ | p.Y81X*+ | E5+E6 | 467.1 | 7826 |
| c.376G>C* | G126R* |
Data summary of 38 mucolipidosis II/III Chinese patients
Note: P indicated patient number, NK indicated unknown; ND indicated not done,* indicated unreported mutation, E indicated exon, the unit of enzyme activity is nmol/h · mL. Reference range: α-mannosidase activity <36.5 nmol/h· mL, Hex A+B activity <1970 nmol/h · mL