I met with Mrs. Amarante ROSSIGNOL born on 08.11.1973, 51 years old, to return her molecular genetics results in the context of a family investigation for congenital lymphedema discovered in her daughter.
A pathogenic mutation was found in her daughter in the FLT4 gene associated with these congenital lymphedemas of autosomal dominant transmission called Milroy disease.
The family investigation reveals that Mrs. ROSSIGNOL is also a carrier of this variant c.3121V>T in a heterozygous state.
She has not apparently had any congenital lymphedema issues in childhood or later. However, after a targeted examination, it turns out that she presents ingrown toenails that have already been operated on several times. These cutaneous particularities are found associated with mutations in this gene.
She is therefore probably minimally symptomatic for this disease.
It is a disease with extremely variable expressivity. This has no current consequences for her health.
Apparently, there are no other known cases in the family, but if they wish, it would now be possible to continue the family investigation to search for this mutation.
I remain at your disposal and with the expression of my devoted sentiments.