Article http://dx.doi.org/10.26855/ijcemr.2022.01.008

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 Gökmen

Division of Neonatology, Department of Pediatrics, School of Medicine, Baskent University, Ankara, Turkey.

*Corresponding author: Musa Silahli

Published: December 21,2021


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 (SFTPB) 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. Variants in SPTPB cause pulmonary disease and due to production of insufficient amount and/or functionally abnormal surfactant, resulting in restrictive pathophysiology, with lungs that are poorly compliant and prone to atelectasis and low lung volumes. 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.


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How to cite this paper

A Novel Mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the SFTPB Gene That Causes Severe Respiratory Failure in A Term Newborn

How to cite this paper: Musa Silahli, Zeynel Gökmen. (2022) A Novel Mutation (c.705C>A (p.C235*) (p.Cys235Ter)) in the SFTPB Gene That Causes Severe Respiratory Failure in A Term NewbornInternational Journal of Clinical and Experimental Medicine Research6(1), 43-47.

DOI: http://dx.doi.org/10.26855/ijcemr.2022.01.008