Clinical data and CIAS1 mutations identified in the 14 tested patients with CINCA syndrome
. | . | . | . | Constant and deforming arthropathies . | CIASI Mutation . | . | Frequency of CIAS1 mutations in controls . | CIAS1 mutations in parents . | |
|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age, y* . | Neurologic involvement . | Joint involvement . | . | Nucleotides . | Amino acids . | . | . | |
| 11 | 3 | NA | AG | No | 779G>T | R260L | 0/74 | — | |
| 14 | 45 | + | TA | No | 1043C>T | T348M | 0/98 | ND | |
| 15 | 22 | + | TA | No | 1896G>T | L632F | 0/98 | — | |
| 21 | 8 | +++ | TA | No | 1062G>T | E354D | 0/98 | — | |
| 12 | 5 | NA | PA | Yes | 779G>C | R260P | 0/74 | — | |
| 8 | 13 | ++ | PA | Yes | 907G>A | D303N | 0/74 | ND | |
| 13 | 13 | + | TA/PA | Yes | 908A>G | D303G | 0/112 | — | |
| 17 | 8 | ++ | TA/PA | Yes | 926T>C | F309S | 0/112 | — | |
| 9 | 22 | + | PA | Yes | 1213A>C | T405P | 0/90 | ND | |
| 18 | 5 | + | TA/PA | Yes | 1307C>T | T4361 | 0/78 | ND | |
| 10 | 3 | ++ | PA | Yes | 1709A>G | Y570C | 0/98 | — | |
| 16 | 1 | ++ | PA | Yes | 1709A>G | Y570C | 0/98 | — | |
| 19 | 22 | +++ | PA | Yes | 1709 A>G | Y570C | 0/98 | ND | |
. | . | . | . | Constant and deforming arthropathies . | CIASI Mutation . | . | Frequency of CIAS1 mutations in controls . | CIAS1 mutations in parents . | |
|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age, y* . | Neurologic involvement . | Joint involvement . | . | Nucleotides . | Amino acids . | . | . | |
| 11 | 3 | NA | AG | No | 779G>T | R260L | 0/74 | — | |
| 14 | 45 | + | TA | No | 1043C>T | T348M | 0/98 | ND | |
| 15 | 22 | + | TA | No | 1896G>T | L632F | 0/98 | — | |
| 21 | 8 | +++ | TA | No | 1062G>T | E354D | 0/98 | — | |
| 12 | 5 | NA | PA | Yes | 779G>C | R260P | 0/74 | — | |
| 8 | 13 | ++ | PA | Yes | 907G>A | D303N | 0/74 | ND | |
| 13 | 13 | + | TA/PA | Yes | 908A>G | D303G | 0/112 | — | |
| 17 | 8 | ++ | TA/PA | Yes | 926T>C | F309S | 0/112 | — | |
| 9 | 22 | + | PA | Yes | 1213A>C | T405P | 0/90 | ND | |
| 18 | 5 | + | TA/PA | Yes | 1307C>T | T4361 | 0/78 | ND | |
| 10 | 3 | ++ | PA | Yes | 1709A>G | Y570C | 0/98 | — | |
| 16 | 1 | ++ | PA | Yes | 1709A>G | Y570C | 0/98 | — | |
| 19 | 22 | +++ | PA | Yes | 1709 A>G | Y570C | 0/98 | ND | |
NA indicates not assessed; +, chronic meningitis; ++, chronic meningitis, mental retardation; +++, chronic meningitis, mental retardation, epilepsy, or cerebral atrophy; TA, transient arthritis; AG, arthralgia; PA, persistent arthritis; ND, not done; and—, no mutation.
Current age.