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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
M Bahuau1, C Houdayer, M Tredano
1Service de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, AP-HP Paris, France. assistants.bm@trs.ap-hop-paris.fr
Clinical Genetics
|December 18, 2002
Summary
A family with distichiasis (double eyelashes) and lymphedema exhibited a FOXC2 gene deletion. This finding underscores the varied symptoms associated with FOXC2 mutations in hereditary lymphedema conditions.
Area of Science:
- Genetics
- Ophthalmology
- Vascular Biology
Background:
- Distichiasis-lymphedema syndrome (DL) is a rare genetic disorder.
- FOXC2 gene mutations are known causes of hereditary lymphedema and DL.
- Phenotypic variability in lymphedema conditions linked to FOXC2 mutations requires further investigation.
Purpose of the Study:
- To investigate the genetic basis of a family with autosomal-dominant distichiasis and lymphedema.
- To identify the specific genetic mutation responsible for the observed phenotype.
- To explore the relationship between genotype and phenotype in FOXC2-associated disorders.
Main Methods:
- Autosomal-dominant segregation analysis across three generations.
- Linkage analysis using markers on chromosome 16q24.3.
- Sequence analysis of the FOXC2 gene.
Main Results:
- A family displayed autosomal-dominant inheritance of distichiasis and pubertal-onset lymphedema.
- Complete linkage to 16q24.3 markers was observed, suggesting allelism to DL.
- An out-of-frame deletion (914-921del) in the FOXC2 gene was identified and segregated with the disease.
Conclusions:
- The identified FOXC2 deletion segregates with the distichiasis-lymphedema phenotype in this family.
- This case highlights the phenotypic heterogeneity of lymphedema conditions associated with FOXC2 truncating mutations.
- Further research is needed to determine if genotype-phenotype correlations or modifying genes influence the observed variability.