A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis
, , , et | 06 juil. 2017
À propos de cet article
Article Category: Research Article
Publié en ligne: 06 juil. 2017
Pages: 363 - 368
Reçu: 26 déc. 2016
Accepté: 23 mai 2017
DOI: https://doi.org/10.1515/raon-2017-0026
© 2017 Tanja Planinsek Rucigaj, Matija Rijavec, Jovan Miljkovic, Julij Selb, Peter Korosec
This work is licensed under the Creative Commons Attribution 4.0 International License.
Figure 1
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 = Primer pairs from |
TCTGGCTCTCTCGCGCTCT | 58 | 476 | 6 | 1.5 |
| FKHL14-2R | AGTAACTGCCCTTGCCGG | ||||
| FOXC2-2F = Primer pairs from |
ACCGCTTCCCCTTCTACCGG | 60 | 519 | 10 | 1.5 |
| FOXC2-2R | TCATGATGTTCTCCACGCTGAA | ||||
| FKHL14-4F = Primer pairs from |
GAAGGTGGTGATCAAGAGCG | 60 | 496 | 6 | 1.5 |
| FOXC2-3R | GAGGTTGAGAGCGCTCAGGG | ||||
| FOXC2-4F = Primer pairs from |
CTGGACGAGGCCCTCTCGGAC | 61 | 464 | 10 | 1.5 |
| FOXC2-4R | GGAGGTCCCGGGACACGTCA | ||||
| FOX_5P_1F = Primer pairs from |
GCCGACGGATTCCTGCGCTC | 61 | 378 | 10 | 1.5 |
| FOX_5P_1R | CCGCTCCTCGCTGGCTCCA | ||||
| FOX_5P_2F = Primer pairs from |
CCGATTCGCTGGGGGCTTGGAG | 61 | 607 | 6 | 1.5 |
| FOX_5P_2R | GCGGGCTGGTGGTGGTGGTAGG | ||||
| FOX_3P_1F = Primer pairs from |
CAACGTGCGGGAGATGTTCAAC | 61 | 464 | 10 | 1.5 |
| FOX_3P_1R | CACAGCACAGCCGTCCTGGTAG | ||||
| FOX_3P_2F = Primer pairs from |
TACTGACGTGTCCCGGGACC | 61 | 468 | 6 | 1.5 |
| FOX_3P_2R | CCACACATTTGTACAGCACGGTTG |
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 | Yes = whole lower limbs |
Yes = whole lower limbs |
Yes = calves only |
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 |
| c.867insA | c.867insA | c.867insA | No | c.867insA | |
| Cellulitis | Yes | Yes | No | No | No |
| Yellow nails | No | No | No | No | No |