Source:http://linkedlifedata.com/resource/pubmed/id/10571948
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2000-1-24
|
| pubmed:abstractText |
Several human respiratory disorders have been linked to an abnormality of pulmonary surfactant synthesis or turnover. Among those conditions, hereditary deficiency in the hydrophobic surfactant protein B (SP-B) has been recognized as a rare cause of respiratory failure in term newborn infants. Homozygosity for a common mutation (1549C-->GAA, or 121ins2) of the SP-B-encoding gene (SFTPB) results in rapidly fatal respiratory failure, with complete absence of the mRNA and protein observed in lung fluid or biopsy specimens. Hereditary SP-B deficiency is also associated with aberrant processing of proSP-C and deficiency of the active SP-C peptide. In the present study, we characterized the SFTPB gene in an infant with severe unexplained respiratory distress and identified a paternally derived 1549C-->GAA lesion, as well as a hitherto unreported mutation (457delC) inherited from the mother. Analysis of bronchoalveolar lavage fluid demonstrated the complete absence of SP-B. However, unlike previous infants with hereditary SP-B deficiency, proSP-C was processed to the active SP-C peptide, suggesting that the defect in SP-B, rather than SP-C, caused the respiratory distress in this infant. The present findings demonstrate the importance of SFTPB in pulmonary function and support the need for further genotype-phenotype correlations in patients with SP-B deficiency.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1059-7794
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 1999 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
502-9
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:10571948-Base Sequence,
pubmed-meshheading:10571948-Bronchoalveolar Lavage Fluid,
pubmed-meshheading:10571948-DNA Primers,
pubmed-meshheading:10571948-Exons,
pubmed-meshheading:10571948-Female,
pubmed-meshheading:10571948-Frameshift Mutation,
pubmed-meshheading:10571948-Genotype,
pubmed-meshheading:10571948-Heterozygote,
pubmed-meshheading:10571948-Humans,
pubmed-meshheading:10571948-Infant, Newborn,
pubmed-meshheading:10571948-Male,
pubmed-meshheading:10571948-Mutation,
pubmed-meshheading:10571948-Pedigree,
pubmed-meshheading:10571948-Phenotype,
pubmed-meshheading:10571948-Proteolipids,
pubmed-meshheading:10571948-Pulmonary Surfactants,
pubmed-meshheading:10571948-Respiratory Distress Syndrome, Newborn,
pubmed-meshheading:10571948-Sequence Deletion
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.
|
| pubmed:affiliation |
Service de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Paris, France. biochimie.trousseau@trs.ap-hop-paris.fr
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|