A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

ABSTRACT:

Background

Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified is EIF2AK4, which encodes for a translation initiation factor. However, not all PCH cases might carry a mutation in this gene.

Case presentation

We report the clinical and cytogenetic characterization of a patient (male, newborn, first child of healthy non-consanguineous parents) died after three days of life with severe neonatal pulmonary hypertension, due to diffuse capillary hemangiomatosis diagnosed post mortem. Conventional karyotyping, Microarray-Based

SUBMITTER: Dello Russo P 

PROVIDER: S-EPMC4605103 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature