Article ; Online: Large ABCA3 and SFTPC deletions resulting in lung disease.
Annals of the American Thoracic Society
2013 Volume 10, Issue 6, Page(s) 602–607
Abstract: ... identified in a child with interstitial lung disease.: Conclusions: Large deletions are a cause ... of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders ... causative genes have been reported.: Objectives: To identify the mechanism(s) for lung disease in two ...
| Abstract | Rationale: Mutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable mutations in the known causative genes have been reported. Objectives: To identify the mechanism(s) for lung disease in two children with the phenotype of surfactant dysfunction who had negative testing in clinical laboratories for gene mutations causing surfactant dysfunction. Methods: Amplicons spanning multiple exons of candidate genes were generated by polymerase chain reaction and sequenced. Measurements and main results: A 4,335-base deletion that included all of exon 12 of the gene encoding member A3 of the adenosine triphosphate-binding cassette transporter was identified in a full-term infant with respiratory failure. A 333-base deletion involving part of exon 4 and the adjacent intron of the gene encoding surfactant protein C was identified in a child with interstitial lung disease. Conclusions: Large deletions are a cause of surfactant dysfunction disorders and may need to be sought for specifically in children whose phenotypes suggest these syndromes but in whom clinical genetic testing is unrevealing. |
|||||
|---|---|---|---|---|---|---|
| MeSH term(s) | ATP-Binding Cassette Transporters/genetics ; Gene Deletion ; Humans ; Infant, Newborn ; Lung/diagnostic imaging ; Lung/metabolism ; Lung/pathology ; Lung Diseases, Interstitial/diagnostic imaging ; Lung Diseases, Interstitial/genetics ; Lung Diseases, Interstitial/pathology ; Male ; Pulmonary Surfactant-Associated Protein C/genetics ; Pulmonary Surfactants/metabolism ; Radiography ; Respiratory Distress Syndrome, Newborn/diagnostic imaging ; Respiratory Distress Syndrome, Newborn/genetics ; Respiratory Distress Syndrome, Newborn/pathology | |||||
| Chemical Substances | ABCA3 protein, human ; ATP-Binding Cassette Transporters ; Pulmonary Surfactant-Associated Protein C ; Pulmonary Surfactants ; SFTPC protein, human | |||||
| Language | English | |||||
| Publishing date | 2013-09-27 | |||||
| Publishing country | United States | |||||
| Document type | Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't | |||||
| ZDB-ID | 2717461-X | |||||
| ISSN | 2325-6621 ; 1943-5665 ; 2325-6621 | |||||
| ISSN (online) | 2325-6621 ; 1943-5665 | |||||
| ISSN | 2325-6621 | |||||
| DOI | 10.1513/AnnalsATS.201306-170OC | |||||
| Shelf mark |
|
|||||
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
| Zs.A 5828: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.