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A novel mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the SFTPB gene that causes severe respiratory failure in a term newborn.
  • Musa Silahli,
  • Zeynel Gokmen
Musa Silahli
Baskent Universitesi Konya Uygulama ve Arastirma Merkezi

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Zeynel Gokmen
Baskent University
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Surfactants 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.