A novel mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the
SFTPB gene that causes severe respiratory failure in a term newborn.
AbstractSurfactants are surface-active agents lowering surface tension in the
airways of the lung. It plays an important role on pulmonary function.
Surfactant proteins constitute 10 percent of the surfactant molecule.
Mutations in genes encoding surfactant proteins can be fatal. Surfactant
protein B gene mutation accounts for 50 percent of the cases that
underwent lung transplantation for the treatment of severe respiratory
failure due to surfactant protein gene mutations in infancy. More than
100 mutations in the surfactant protein B gene have been described.
Here, we present a case of a term newborn who was referred with the
diagnosis of persistent pulmonary hypertension of the newborn, who died
due to a previously unidentified surfactant protein B gene mutation with
severe respiratory failure and air leak syndromes.