Vascular Malformations Section (INGEMM-CIBERER)

Genetics of vascular and lymphatic malformations: Vascular malformations are abnormal blood and/or lymphatic vessels that occur during fetal development due to multiple causing mechanisms, which can cause significant morbidity and mortality. In most isolated cases the genetic cause is unknown. On the other hand, the appearance of these abnormalities in some genetic syndromes is due to mutations in known genes. This project's general objective is to find new genes causing these anomalies and expand knowledge about already associated genes. To achieve this goal we perform next generation sequencing studies: custom panels aimed to establish genotype-phenotype correlations in syndromes with known associated genes, and sequencing of complete exome for gene discovery in syndromes with no known cause or for those syndromes in which the currently known genes do not show positive results in all cases.