TABLE 2.
Comparison of ANK-associated phenotypes
| Involved organ | Tissue | Phenotype | Mental retardation, deafness, and ankylosis ANK L244S human, recessive | CMD (6 8 29 37 ) ANK F377Del human, dominant | CC (9 ) ANK M48T human, dominant | Ank KI/KI (32 ) Ank F377Del mouse, recessive | ank (13 27 36 38 ) Ank E440X mouse, recessive |
|---|---|---|---|---|---|---|---|
| CNS | Nervous system | Mental retardation | ++ | − | − | ND | ND |
| Auditory pathways | Nervous system | Sensorineural hearing loss | ++ | +/− (deafness secondary to compression) | − | ND | ND |
| Middle ear | Conductive hearing loss (stapes fixation) | +++ (early onset) | ++ | − | ND | +++ (early onset) | |
| Small joints | Articular cartilage | Calcification | +/− (periarticular) | − | +++ | +++ (early onset) | +++ (early onset) |
| Type of mineral | ND | − | CPPD | ND | HA | ||
| Capsule | Inflammation | ++ | − | ND | ND | ++ | |
| Knee joint | Articular cartilage | Calcification | − | − | +++ (late onset) | ND | − |
| Ligament | Calcification | +1 | − | ND | ND | +++ | |
| Synovium/ligament | Fibrosis | + | − | ND | ND | +++ | |
| Synovial fluid | Crystal | ND | ND | +++ (CPPD) | ND | ND | |
| Vertebra | Intervertebral disc | Osteophytes | +++ | − | ++ | ND | +++ (late onset) |
| Trabecular bone | Osteopenia | − | + | − | ND | − | |
| Skull | Vault | Hyperostosis | − | +++ | − | + | + |
| Hypermineralization | − | ND | − | + | + (local) | ||
| Mandible | Hyperostosis | − | + | − | + | ND | |
| Long bones | Trabecular bone | Osteopenia | + | + | + | +++ | +++ |
| Cortical bone | Osteopenia | + | − | + | +++ | +++ | |
| Growth plate | Abnormality | ND | ND | ND | ND | − | |
| Teeth | Dentin density | Reduction | + | ND | ND | + | − |
| Cementum | Expanded | ND | ND | ND | ND | + | |
| Stature | Small | + | − | − | − | − |
CC, Chondrocalcinosis; HA, hydroxyapatite; ND, not determined; −, no effect; +, weak effect; +++, strong effect.
1
Ligament calcification is present of the tuber ischiadicum and trochanter major.