Clinical findings and mutations of the 14 patients studied
| Patients | 1-I | 2-I | 2-II | 3-I | 4-I | 4-II | 5-I | 5-II | 5-III | 5-IV | 6-I | 6-II | 7-I | 8-I |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| +, present; -, not present; NA, not available; J, Jewish, y, years; SD, standard deviation. | ||||||||||||||
| CDH: congenital hip dislocation; CTS: carpal tunnel syndrome; Elbows, wrist, shoulder, etc.: movement limitation; Hand: joint limitation and or claw hand; Heart: AS: aortic stenosis; SM: systolic murmur; Knee*: genu valgum; Neck: stiff and/ or short; Spine: kyphosis and/or scoliosis; Stop (n bp): stop codon n base pairs down stream the mutation; sub-articul., around the articulations; TA: thenar atrophy; Thorax: pectus excavatum and/or asymmetry; Wrist*: enlargement of the articulation in addition to limitation of movement. | ||||||||||||||
| Ethnic origin | Druze | J. Tunisian | J. Tunisian | J. Tunisian | J. Tunisian | J. Tunisian | Turkish | Turkish | Turkish | Turkish | J. Iranian | J. Iranian | Finnish | Dutch |
| Consanguinity | + | + | + | + | + | + | + | + | + | + | + | + | − | − |
| Family history | + | + | + | − | + | + | + | + | + | + | + | + | − | − |
| Age at diagnosis (years) | 13 | 8 | 9 | 12 | 28 | 8 | 6 | 7 | 6 | 2 | 15 | 13 | 5 | 7 |
| Previous diagnosis | FMF | |||||||||||||
| Elbows | + | + | + | + | + | − | + | − | − | − | + | + | + | − |
| Wrist | + | + | + | + | + | − | + | − | − | − | +* | + | + | − |
| Shoulder | − | + | + | + | + | − | + | − | − | − | NA | NA | + | + |
| Hand | + | + | + | + | + | + | + | − | − | − | + | + | + | + |
| Carpal tunnel | No | Yes | ||||||||||||
| Knee | +* | +* | +* | +* | + | − | − | − | − | − | +* | +* | + | − |
| Hip | + | + | + | + | + | + | − | − | − | − | + | − | + | − |
| Spine | + | + | + | + | + | + | − | − | − | − | + | − | + | − |
| Short stature (SD) | NA | 10 y (-1), 35 y (-4) | 9 y (-2) | 12 y (-2.5) | + | + | − | − | − | − | 15 y (-2.2) | 13 y (-3) | 2 y (-1), 10 y (-3) | 14 y (-2) |
| Thorax | + | + | + | + | + | − | − | − | − | − | + | − | − | − |
| Neck | + | + | + | + | + | − | − | − | − | − | + | + | + | − |
| Coarse facies | + | + | + | − | + | − | − | − | − | − | − | − | − | − |
| Eyes | − | − | − | − | + | − | − | − | − | − | NA | NA | − | − |
| Heart | NA | AS | + | AS | AS | − | − | SM | SM | − | SM | NA | − | − |
| Hernia | − | − | − | + | − | − | + | − | − | − | − | − | − | − |
| Mental/learning | − | − | − | − | − | − | − | − | − | − | − | + | + | − |
| Metallic voice | + | + | + | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Others | Nodules sub-articul. | CDH | Genu valgum at 14 y | Hip osteochondritis | CTS and TA | |||||||||
| Mutation c.DNA | 316G>A | 500insC | 500insC | 500insC | 500insC | 500insC | 608insC | 608insC | 608insC | 608insC | 445delG | 445delG | 379 del13bp | IVS5-1G>C and 196C>T |
| Exon | 5 | 7 | 7 | 7 | 7 | 7 | 8 | 8 | 8 | 8 | 7 | 7 | 6 | 6 and 4 |
| Effect | G106S | Stop (91 bp) | Stop (91 bp) | Stop (91 bp) | Stop (91 bp) | Stop (91 bp) | Stop (8 bp) | Stop (8 bp) | Stop (8 bp) | Stop (8 bp) | Stop (37 bp) | Stop (37 bp) | Stop (90 bp) | skip. Ex.6 R66X |