Table 1
Clinical findings of family members with primary lymphoedema
| Patients | |||||
|---|---|---|---|---|---|
| Gender | M | F | M | F | F |
| Age (years) | 74 | 39 | 14 | 9 | 6 |
| Lymphoedema | Yes | Yes | Yes | No | No |
| Lower limbs | Yesa | Yesa | Yesb | No | No |
| Genital | Yes | No | No | No | No |
| Distichiasis | No | No | No | No | No |
| Onset (years) | 11 | 9 | 13 | / | / |
| Varicose veins | Yes | Yes | No | No | No |
| Ptosis | No | No | No | No | No |
| Cleft palate | No | No | No | No | No |
| Congenital heart disease | No | No | No | No | No |
| FOXC2 mutation | c.867insA | c.867insA | c.867insA | No | c.867insA |
| Cellulitis | Yes | Yes | No | No | No |
| Yellow nails | No | No | No | No | No |
F = female; M = male
Table 2
Primer sequences and conditions used to amplify and sequence the FOXC2 gene and its upstream and downstream regions
| Name of primer | Sequence (5˘-3˘) | Annealing temp (°C) | Product size (bp) | DMSO % | MgCl2 mM |
|---|---|---|---|---|---|
| FOXC2-1F a | TCTGGCTCTCTCGCGCTCT | 58 | 476 | 6 | 1.5 |
| FKHL14-2R | AGTAACTGCCCTTGCCGG | ||||
| FOXC2-2F a | ACCGCTTCCCCTTCTACCGG | 60 | 519 | 10 | 1.5 |
| FOXC2-2R | TCATGATGTTCTCCACGCTGAA | ||||
| FKHL14-4F a | GAAGGTGGTGATCAAGAGCG | 60 | 496 | 6 | 1.5 |
| FOXC2-3R | GAGGTTGAGAGCGCTCAGGG | ||||
| FOXC2-4F a | CTGGACGAGGCCCTCTCGGAC | 61 | 464 | 10 | 1.5 |
| FOXC2-4R | GGAGGTCCCGGGACACGTCA | ||||
| FOX_5P_1F b | GCCGACGGATTCCTGCGCTC | 61 | 378 | 10 | 1.5 |
| FOX_5P_1R | CCGCTCCTCGCTGGCTCCA | ||||
| FOX_5P_2F b | CCGATTCGCTGGGGGCTTGGAG | 61 | 607 | 6 | 1.5 |
| FOX_5P_2R | GCGGGCTGGTGGTGGTGGTAGG | ||||
| FOX_3P_1F b | CAACGTGCGGGAGATGTTCAAC | 61 | 464 | 10 | 1.5 |
| FOX_3P_1R | CACAGCACAGCCGTCCTGGTAG | ||||
| FOX_3P_2F c | TACTGACGTGTCCCGGGACC | 61 | 468 | 6 | 1.5 |
| FOX_3P_2R | CCACACATTTGTACAGCACGGTTG |
a = Primer pairs from27
a = Primer pairs from27
a = Primer pairs from27
a = Primer pairs from27
b = Primer pairs from28
b = Primer pairs from28
b = Primer pairs from28
c = Primer pairs from26
Figure 1
Pedigree of the family with new mutation in FOXC2 gene. Full symbols indicate patients with lymphoedema, asterisk (*) indicate year of birth of the recruited subjects and subjects with c.867insA FOXC2 mutation are indicated as FOXC2 (+).