Clinical, biochemical, and genetic data of the MPS IVA patients
| Case | Sex | Phe* | Age (years) | Present weight (kg) | Present height (cm) | Stop growing | Surgery† | Allele 1 | Allele 2 | Racial background | Plasma KS‡ | Urine KS§ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Phe: phenotype: m, milder (attenuated); s, severe; †surgery: cervical fusion, knee, hip, and leg surgery involving the bone deformity; ‡plasma KS: normal value KS (20–240 ng/ml); §urine KS: normal value KS (0–0.17 mg/g creatinine); ¶consanguinity; **US resident; ††resident in Canada. | ||||||||||||
| Patients 7 and 8 and patients 9 and 10 are sibling cases. NA, not available; ND, not determined. | ||||||||||||
| 1 | M | S | 13.4 | 20.9 (−3.8 SD) | 106.7 (−7 SD) | + | + | I113F | R361G | British/German** | NA | NA |
| 2 | M | S | 10.7 | 18.1 (−3.5 SD) | 92.7 (−7.1 SD) | + | + | c.899-2A>G | ND | Mexican/Lebanese** | 1388 | 13.6 |
| 3 | F | S | 37 | 24.9 (−5.1 SD) | 106.7 (−9.1 SD) | + | + | 600 Gdel | ND | Caucasian | NA | NA |
| 4 | F | S | 9.5 | 31.7 (0.2 SD) | 107 (−4.9 SD) | + | + | S287L | L352P | Irish/Italian/Polish** | NA | NA |
| 5 | M | S | 14.5 | 27.4 (−3.1 SD) | 119.4 (−5.9 SD) | + | − | G301C | ND | French†† | 802 | 3.3 |
| 6 | F | M | 11.5 | 30.4 (−1.6 SD) | 110.4 (−5.3 SD) | + | + | M391V | Q338X | Irish/German/Swedish** | 760 | 19.4 |
| 7 | F | M | 27 | 46.7 (−1.7 SD) | 146.6 (−2.7 SD) | + | + | T312S | 154–165del | Irish | NA | NA |
| 8¶ | M | S | 20 | 27 (−5.1 SD) | 92.7 (−12.4 SD) | + | + | G47R | G47R | Honduran** | NA | NA |
| 9 | M | S | 10 | 13 (−9.1 SD) | 90 (−7.6 SD) | + | + | A291T | c.758+1G>C | Japanese | 379 | 13.9 |
| 10 | F | S | 12.5 | 22.6 (−3.6 SD) | 119.3 (−5.3 SD) | + | + | G155E | ND | Dutch/Irish/Scottish** | 899 | 12.8 |
| 11 | F | S | 17 | 22.7 (−6.2 SD) | 95 (−11.6 SD) | + | + | G301C | G301C | French** | 617 | 3.5 |
| 12 | M | S | 9.5 | 20 (−2.8 SD) | 104.3 (−5.1 SD) | + | + | M41L | M41L | Acadian** | 629 | NA |
| 13 | M | S | 14.2 | 15.9 (−5.2 SD) | 88.9 (−9.5 SD) | + | + | R376Q | I113F | Irish** | NA | NA |
| 14 | F | S | 6 | 14 (−2.8 SD) | 92 (−4.8 SD) | + | + | R90W | G340D | Austrian | NA | NA |
| 15 | M | S | 7.7 | 15.8 (−3.3 SD) | 88.9 (−7.1 SD) | + | + | c.898+1G>C | c.898+1G>C | Czech/German/Irish/Polish** | NA | NA |
| 16 | M | S | 8.2 | 13.6 (−4.3 SD) | 86.4 (−8.4 SD) | + | − | D233N | L345P | German/Polish** | NA | NA |
| 17 | M | M | 22.3 | 54.5 (0.5 SD) | 129.5 (−5.4 SD) | + | − | G139S | G247D | Irish/German** | NA | NA |
| 18 | F | M | 10.6 | 22.2 (−2.6 SD) | 122 (−3 SD) | − | + | M391V | M391V | French†† | 582 | 13.1 |
| 19 | M | M | 8.1 | 31.7 (0.0 SD) | 123 (−1.0 SD) | − | − | M391V | M391V | French†† | 577 | 6 |
| 20 | M | S | 16.7 | 27 (−4.7 SD) | 111 (−9.1 SD) | + | + | R386C | ND | Mexican | NA | 8.7 |
| 21 | M | M | 38 | 50 (−1.2 SD) | 142 (−5 SD) | + | + | R94G | N204K | Japanese | 310 | 0.9 |
| 22 | F | S | 26.5 | 24.4 (−5.1 SD) | 106.6 (−9.1 SD) | + | + | H166Q | ND | Irish/Danish†† | 714 | 4.7 |
| 23 | M | S | NA | NA | NA | NA | NA | P77R | P77R | Caucasian** | NA | NA |
| 24 | M | M | 7.6 | 26.3 (0.7 SD) | 119.5 (−1.2 SD) | − | − | H398D | H398D | Pakistani | NA | NA |
| 25 | F | M | 24 | 40 (−2.7 SD) | 140 (−3.8 SD) | + | − | H398D | H398D | Pakistani | NA | NA |
| 26 | M | M | 18 | 48 (−2.5 SD) | 165 (−1.6 SD) | + | − | S287L | S295F | Austrian | NA | NA |
| 27 | M | M | 24.7 | 47.7 (−2.7 SD) | 127 (−7.4 SD) | + | − | M41L | M41L | Acadian** | 422 | 0.4 |
| 28 | M | S | 10 | 40.8 (−2.2 SD) | 99.1 (−6.5 SD) | + | + | F69V | G301C | Colombian** | NA | NA |