Hill Publishing Group | contact@hillpublisher.com

Hill Publishing Group

Location:Home / Journals / International Journal of Clinical and Experimental Medicine Research /

DOI: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

Date: December 21,2021 |Hits: 333 Download PDF How to cite this paper

Musa Silahli*, Zeynel Gökmen

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

*Corresponding author: Musa Silahli

Abstract

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.

References

[1] Avery, M. E., Mead, J. (1959). Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child, 97: 517-523.

[2] Chroneos, Z. C., Sever-Chroneos, Z., Shepherd, V. L. (2010). Pulmonary surfactant: An immunological perspective. Cell Physiol Biochem, 25: 13-26.

[3] Orgeig, S., Hiemstra, P. S., Veldhuizen, E. J., Casals, C., Clark, H. W., Haczku, A., Knudsen, L., and Possmayer, F. (2010). Recent advances in alveolar biology: evolution and function of alveolar proteins. Respiratory physiology & neurobiology, 173 Suppl(0), S43-S54. https://doi.org/10.1016/j.resp.2010.04.023. 

[4] Whitsett, J. A., Weaver, T. E. (2002). Mechanisms of disease: hydrophobic surfactant proteins in lung function and disease. N Engl J Med., 347: 2141-2148. 

[5] Crouch, E. C. (1998). Structure, biologic properties, and expression of surfactant protein D. Biochim Biophys Acta.. 1408: 278-289.

[6] Cole, F. S., Hamvas, A., Rubinstein, P., King, E., Trusgnich, M., Nogee, L. M., et al. (2000). Population-based estimates of surfactant protein B deficiency. Pediatrics, 105(3 Pt 1), 538-541. https://doi.org/10.1542/peds.105.3.538. 

[7] Hamvas, A. (2006). Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol, 30: 316-326.

[8] Ueno, T., Linder, S., Na, C. L., Rice, W. R., Johansson, J., and Weaver, T. E. (2004). Processing of pulmonary surfactant protein B by napsin and cathepsin H. The Journal of biological chemistry, 279(16), 16178-16184. https://doi.org/10.1074/jbc.M312029200. 

[9] National Center for Biotechnology information, U.S National Library of Medicine, http:/ncbi.nlm.nih.gov/clinvar. (Search for SFTPB gene). Access: 23-10-2021.

[10] Hamvas, A., Trusgnich, M., Brice, H., Baumgartner, J., Hong, Y., Nogee, L. M., & Cole, F. S. (2001). Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards. Pediatric research, 50(5), 666–668. https://doi.org/10.1203/00006450-200111000-00021 

[11] Beers, M. F., Hamvas, A., Moxley, M. A., Gonzales, L. W., Guttentag, S. H., Solarin, K. O., et al. (2000). Pulmonary surfactant metabolism in infants lacking surfactant protein B. American journal of respiratory cell and molecular biology, 22(3), 380-391. https://doi.org/10.1165/ajrcmb.22.3.3645. 

[12] Li, J., Ikegami, M., Na, C. L., Hamvas, A., Espinassous, Q., Chaby, R., et al. (2004). N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding. Biochemistry, 43(13), 3891-3898. https://doi.org/10.1021/bi036218q. 

[13] Shulenin, S., Nogee, L. M., Annilo, T., Wert, S. E., Whitsett, J. A., and Dean, M. (2004). ABCA3 gene mutations in newborns with fatal surfactant deficiency. The New England journal of medicine, 350(13), 1296-1303. https://doi.org/10.1056/NEJMoa032178. 

[14] Deterding, R. R., Sontag, M., Kerby, G., et al. (2005). Clinical characteristics of surfactant protein C mutations in children. Am J Respir Crit Care Med.; abstract 2:A474. 

[15] Garmany, T. H., Moxley, M. A., White, F. V., Dean, M., Hull, W. M., Whitsett, J. A., et al. (2006). Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res. 59(6): 801-5. doi: 10.1203/01.pdr.0000219311.14291.df. Epub 2006 Apr 26. PMID: 16641205. 

[16] Brasch, F., Schimanski, S., Mühlfeld, C., Barlage, S., Langmann, T., Aslanidis, C., et al. (2006). Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med., 2006 Sep 1, 174(5): 571-80. doi: 10.1164/rccm.200509-1535OC. Epub 2006 May 25. 

[17] Yang, F., Zhang, J., Yang, Y., Ruan, F., Chen, X., Guo, J., et al. (2020). Regulatory Roles of Human Surfactant Protein B Va-riants on Genetic Susceptibility to Pseudomonas Aeruginosa Pneumonia-Induced Sepsis. Shock, 2020 Oct., 54(4): 507-519. doi: 10.1097/SHK.0000000000001494. Erratum in: Shock. 2021 Feb 1, 55(2): 284. PMID: 31851120 

[18] Munis, A. M., Hyde, S. C., Gill, D. R. (2020). A human surfactant B deficiency air-liquid interface cell culture model suitable for gene therapy applications. Mol Ther Methods Clin Dev. 2020 Nov 20, 20:237-246. doi: 10.1016/j.omtm.2020.11.013. PMID: 33426150; PMCID: PMC7782204. 

[19] Nogee, L. M., de Mello, D. E., Dehner, L. P., Colten, H. R. (1993). Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med., 328: 406-410

[20] Eldridge, W. B., Zhang, Q,, Faro, A., et al. (2017). Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr., May, 184:157-164.e2. doi: 10.1016/j.jpeds.2017.01.017. Epub 2017 Feb 16. PMID: 28215425; PMCID: PMC5443678.

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

Volumes & Issues

Free HPG Newsletters

Add your e-mail address to receive free newsletters from Hill Publishing Group.

Contact us

Hill Publishing Group

8825 53rd Ave

Elmhurst, NY 11373, USA

E-mail: contact@hillpublisher.com

Copyright © 2019 Hill Publishing Group Inc. All Rights Reserved.