A novel mutation in surfactant protein-B gene resulting in fatal neonatal respiratory distress in an Indian family

2012 ◽  
Vol 5 (2) ◽  
pp. 183-187
Author(s):  
Z. Amin ◽  
J. Lee ◽  
M.E. Nga
Keyword(s):  
Respiratory Distress ◽  
Novel Mutation ◽  
Surfactant Protein ◽  
Indian Family ◽  
Surfactant Protein B ◽  
Neonatal Respiratory Distress ◽  
Protein B

Hereditary surfactant protein B deficiency resulting from a novel mutation

2000 ◽  
Vol 26 (1) ◽  
pp. 97-100 ◽  
Author(s):  
M. Somaschini ◽  
S. Wert ◽  
G. Mangili ◽  
A. Colombo ◽  
L. Nogee
Keyword(s):  
Novel Mutation ◽  
Surfactant Protein ◽  
Surfactant Protein B ◽  
Surfactant Protein B Deficiency ◽  
Protein B

scholarly journals 167 Variation in the Surfactant Protein B Gene (SFTPB) Contributes to Newborn Respiratory Distress (RDS)

2005 ◽  
Vol 58 (2) ◽  
pp. 383-383
Author(s):  
A Hamvas ◽  
D Wegner ◽  
M Trusgnich ◽  
Y Liu ◽  
K Wissman ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Surfactant Protein ◽  
Surfactant Protein B ◽  
Protein B

A major deletion in the surfactant protein-B gene causing lethal respiratory distress

2007 ◽  
Vol 96 (4) ◽  
pp. 516-520 ◽  
Author(s):  
Daniel J Wegner ◽  
Torbjörn Hertzberg ◽  
Hillary B Heins ◽  
Göran Elmberger ◽  
Michael J MacCoss ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Surfactant Protein ◽  
Surfactant Protein B ◽  
Protein B

scholarly journals Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome

2011 ◽  
Vol 44 (1) ◽  
pp. 66-72 ◽  
Author(s):  
P.P.R. Lyra ◽  
E.M.A. Diniz ◽  
K. Abe-Sandes ◽  
A.L.D. Angelo ◽  
T.M.B. Machado ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Surfactant Protein ◽  
Surfactant Protein B ◽  
Preterm Babies ◽  
Protein B

Partial Deficiency of Surfactant Protein B in an Infant With Chronic Lung Disease

PEDIATRICS ◽  
1995 ◽  
Vol 96 (6) ◽  
pp. 1046-1052
Author(s):  
Philip L. Ballard ◽  
Lawrence M. Nogee ◽  
Michael F. Beers ◽  
Roberta A. Ballard ◽  
Benjamin C. Planer ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Lung Disease ◽  
Lung Tissue ◽  
Chronic Lung Disease ◽  
Restriction Analysis ◽  
Surfactant Protein ◽  
Unexpected Death ◽  
Surfactant Protein B ◽  
Partial Deficiency ◽  
Protein B

Objective. To evaluate components of pulmonary surfactant and identify mutations in the surfactant protein B gene (SP-B) of a term infant with severe respiratory distress and chronic lung disease. Patient and Testing. Respiratory distress developed in an infant delivered at term, and he required extracorporeal bypass support for 2 weeks. Until his unexpected death at 9.5 months, he was ventilator and oxygen dependent and required continual dexamethasone therapy. Tracheobronchial lavage samples were analyzed for content of surfactant proteins (SPs), and DNA from blood samples were sequenced and analyzed by polymerase chain reaction restriction analysis for the presence of SP-B gene mutations. Surfactant lipid composition and function, the contents of SPs and their messenger RNAs (mRNAs), and the immunostaining pattern for SPs were determined in postmortem lung tissue. Results. The lavage sample contained SP-A but not SP-B, and DNA restriction analysis indicated that the patient and his mother were heterozygous for the previously described 121ins2 mutation of SP-B. Postmortem lung tissue contained normal levels of SP-A and its mRNA, a low but detectable level of SP-B, and near normal content of SP-B mRNA. SP-C was abundant on staining, and some 6-kd precursor was present in tissue. A surfactant fraction was deficient in phosphatidylglycerol and was not surface active. On DNA sequencing, a point mutation was found in exon 7 of the patient's SP-B gene allele without the 121ins2 mutation, resulting in a cysteine for arginine substitution, and the father was a carrier for the same mutation. Conclusions. We describe a patient who is a compound heterozygote with a new mutation and only a partial deficiency of SP-B. Some forms of inherited SP-B deficiency may have low expression of immunoreactive and possibly functional SP-B with milder lung disease and longer survival. These infants may benefit from glucocorticoid therapy and may not develop antibodies to SP-B after either lung transplant or gene therapy.

Sign in / Sign up

Export Citation Format

Share Document